Online ISBN: 9780470015902

DOI: 10.1002/047001590X

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  1. Antibodies
  2. Biochemistry
  3. Bioethics & Philosophy
  4. Biomolecular Interactions
  5. Cell Biology
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  7. Diagnostics, Therapeutics and Methods
  8. Ecology
  9. Enzymes: Structure and Action Mechanism
  10. Evolution & Diversity of Life
  11. Genetics & Disease
    1. Bioinformatics and Genetic Disease
    2. Cancer Genetics
    3. Chromosomal Disorders
    4. Epigenetics and Disease
    5. Forensic Genetics
    6. Gene and Genome Structure and Organisation
    7. Gene Expression Profiling of Genetic Disease
    8. Gene Mapping by Disease Association
    9. Gene Therapy
    10. General Genetics and Disease
    11. Genetic Counseling
    12. Genetic Models
    13. Genetics of Intelligence and Cognition
    14. Genomic Disorders
    15. Inter-Individual Variation and Polymorphism
    16. Linkage Analysis
    17. Mitochondrial Diseases
    18. Model Organisms and Human Disease
    19. Molecular Genetics of Common and Complex Disease
    20. Mutational Mechanisms of Genetic Disease
      1. 22q11 Deletion Syndrome: A Role for Tbx1 in Pharynx and Cardiovascular Development
      2. A-to-I RNA Editing and Human Genetic Disease
      3. Activating and Inactivating Mutations in the GNAS1 Gene
      4. The Aetiologic Spectrum of Cerebellar Ataxia: Inherited Causes of Ataxia
      5. Aging: Genetics
      6. Albinism: Genetics
      7. Allelic and Locus Heterogeneity
      8. Alternative Splicing: Role of Pseudoexons in Human Genetic Disease
      9. Amyloidosis
      10. Androgen Insensitivity
      11. Anticipation
      12. Antitrypsin (AAT) Deficiency-α1
      13. Application of Exome Sequencing to Mendelian Disorders and the Emergence of Personalised Medicine
      14. Assessment of Disease-Associated Sequence Variants and Considerations for Functional Validation using Mouse Models
      15. Autoimmune Disease: Genetics
      16. Autosomal Mutations and Spermatogenic Failure
      17. Barrett Esophagus
      18. Biallelic Germline Mutations of Mismatch-Repair Genes and Paediatric Malignancies
      19. Bladder Cancer
      20. Blood Clotting: General Pathway
      21. Blood Groups: Molecular Genetic Basis
      22. Brain Tumours
      23. Brugada Syndrome
      24. Cancer
      25. Capillary Malformation–Arteriovenous Malformation and RASA1 Mutations
      26. Cardiofaciocutaneous (CFC) Syndrome
      27. Cell Adhesion Molecules and Human Disorders
      28. Cellular Basis of Laminopathies
      29. CFTR: The CF Gene and Its Regulation in Physiology and Disease
      30. Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
      31. Cholesterol Metabolism and Vascular Disease
      32. Chromosomal Genetic Disease: Structural Aberrations
      33. Chromothripsis and Human Genetic Disease
      34. Chronic Myeloproliferative Neoplasms: Clinical and Molecular Genetics
      35. Cilia and Human Disease
      36. Cis-Regulatory Mutations in Human Disease
      37. Clinical Molecular Cytogenetics
      38. Colour Vision Defects
      39. Complement Regulatory Proteins and Related Diseases
      40. Complement: Deficiency Diseases
      41. Conditional Lethal Mutations as Experimental Tools
      42. Congenital Adrenal Hyperplasia
      43. Copper Metabolism, ATP7A and Menkes Disease
      44. CpG Dinucleotides and Human Disorders
      45. Craniofacial Abnormalities: Molecular Basis
      46. Cystathionine β-synthase (CBS) Deficiency: Genetics
      47. Cystic Fibrosis Transmembrane Conductance Regulator Sequences: Comparative Analysis
      48. Cystic Fibrosis: Modifier Genes
      49. Cystinuria
      50. Cytotoxicity of Aberrant Proteins
      51. Deafness: Hereditary
      52. Deconstructing Gene Function through ENU Mutagenesis
      53. Dental Anomalies: Genetics
      54. Desminopathy
      55. Development of the Mammalian Gonad: Key Sex-Determining Genes in Mice and Humans
      56. Development: Disorders
      57. Developmental Syndromes of Ras/MAPK Pathway Dysregulation
      58. Diamond–Blackfan Anaemia: From Genotype to Phenotype
      59. Digenic Inheritance
      60. Disease Associations: Human Leukocyte Antigen (HLA) and Apolipoprotein E (APOE) Gene
      61. DNA Helicase-deficiency Disorders
      62. DNA Interstrand Crosslink Repair
      63. DNA Methylation and Mutation
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        DNA Repair
      65. DNA Repair: Disorders
      66. DNA Strand Break Repair and Human Genetic Disease
      67. You have free access to this content
        Dominance and Recessivity
      68. Dysmorphism: Syndromes
      69. Environmental Mutagenesis
      70. Essential Genes and Human Genetic Disease
      71. Ethnicity and Disease
      72. Expanding Mutations/Genetic Anticipation
      73. Eye Disorders: Hereditary
      74. Facioscapulohumeral Muscular Dystrophy
      75. Facioscapulohumeral Muscular Dystrophy: Genetics
      76. Factor V Leiden
      77. Familial Adenomatous Polyposis
      78. Familial Mediterranean Fever
      79. Forkhead Transcription Factors in Genetic Disease
      80. The Fragile X Syndrome
      81. Fructose Metabolism Disorders
      82. Functional Complementation
      83. G-protein-mediated Signal Transduction and Human Disorders
      84. Gain- and Loss-of-function Mutations in Trypsinogen
      85. Gain-of-function Mutations in Human Genetic Disorders
      86. Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease
      87. Gene Amplification and Cancer
      88. Gene and Cell Therapy for Inherited Retinal Dystrophies
      89. Gene Conversion
      90. Gene Conversion During Primate Evolution
      91. Gene Duplication and Redundancy
      92. Genetic Disease: Prevalence
      93. Genetic Disorders
      94. Genetic Imprinting in the Prader–Willi and Angelman Syndromes
      95. Genetic Modifiers in Huntington Disease
      96. Genetic Modifiers of Neurological Disease
      97. Genetic Susceptibility to Autoimmune Disorders
      98. Genetic Variation: Human
      99. You have free access to this content
        Genetic Variation: Polymorphisms and Mutations
      100. Genetics and Epigenetics of Autoimmune Diseases
      101. Genetics of Alopecia
      102. Genetics of Carney Complex
      103. Genetics of Cerebellar and Vestibular Disorders
      104. Genetics of Diseases of the Nuclear Envelope
      105. Genetics of Dyskeratosis Congenita
      106. Genetics of Essential Tremor
      107. Genetics of Familial Amyloid Neuropathies
      108. Genetics of Glomerular Basement Membrane Disorders
      109. Genetics of Human Zinc Deficiencies
      110. Genetics of Lipodystrophies
      111. Genetics of Neonatal Autoimmune and Autoinflammatory Diseases
      112. Genetics of Pain Insensitivity
      113. Genetics of Phosphate Regulation Disorders
      114. Genetics of PTEN Hamartoma Tumour Syndrome
      115. Genetics of Recessive Cognitive Disorders
      116. Genetics of SHOX Deficiency
      117. Genetics of Silver–Russell Syndrome
      118. Genetics of the Autosomal Dominant Spinocerebellar Ataxias
      119. Genetics of the Ribosomopathies
      120. Genetics of X-linked Mental Retardation
      121. Genomic Rearrangements: Mutational Mechanisms
      122. Genotype–Phenotype Relationship in Hereditary Hemochromatosis
      123. Genotype-Phenotype Relationships
      124. Genotype–Phenotype Relationships: Fatal Familial Insomnia and Creutzfeldt–Jakob Disease
      125. GLI Proteins in Human Genetic Disease
      126. Globin Synthesis
      127. Glycogen Storage Diseases
      128. Gonadotropin Hormones: Disorders
      129. Growth Disorders: Hereditary
      130. Haemoglobinopathies
      131. Hamartomatous Polyposis Syndromes: Peutz–Jeghers Syndrome and Familial Juvenile Polyposis
      132. Haploinsufficiency
      133. Hemochromatosis
      134. Hereditary Nonpolyposis Colorectal Cancer
      135. Histidine Triad (HIT) Superfamily
      136. Human Chromosome Evolution
      137. Human Disease and the Desmosome
      138. Human Disease: Mouse Models
      139. Human Intronless Genes and their Associated Diseases
      140. Human Leukocyte Antigen (HLA) System and Human Disorders
      141. Hypertrophic Cardiomyopathy
      142. Identification of Disease Genes by CGH Microarrays
      143. Immunodeficiency Disorders Due to Antibody Deficiency (B-Lymphocyte Disorders)
      144. The Immunogenetics of the Autoimmune Myasthenias
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        Immunoglobulin Gene Construction: Human
      146. Impact of Missense Variants on Protein–Protein Interactions
      147. Implications of RNA-binding Proteins for Human Diseases
      148. In Vitro Mutagenesis
      149. Inborn Errors of Metabolism
      150. Infectious Diseases: Predisposition
      151. Inherited Diseases of Intermediary Metabolism: Molecular Basis
      152. Intermediate Filaments
      153. Intersex Disorders
      154. Ion Transport across Nonexcitable Membranes
      155. Iron Overload and Chelation Therapy
      156. Iron-Loading Anaemia
      157. Lecithin:Cholesterol Acyltransferase (LCAT) Deficiency: Molecular Genetics
      158. Lesch–Nyhan Disease
      159. Lesch–Nyhan Syndrome
      160. Li–Fraumeni Syndrome
      161. Limb Development Anomalies: Genetics
      162. LiNC Complex and Human Genetic Muscular Disease
      163. LINC Complexes and Their Role in Human Disease
      164. Lipoproteins: Genetic Disorders
      165. Macrophage Function Disorders
      166. Malignant Hyperthermia and Central Core Disease
      167. Mechanisms of RNA-Induced Toxicity in Diseases Characterised by CAG Repeat Expansions
      168. Meckel Syndrome and Related Disorders
      169. Medical Genetics: History
      170. Melanoma: Genetics
      171. Membrane Traffic and Disease
      172. Metabolism: Hereditary Errors
      173. Microdeletion Syndromes
      174. Microdeletions and Microduplications: Mechanism
      175. Microsatellite Instability
      176. Mismatch Repair Genes
      177. Mitochondrial Disorders: Nuclear Gene Mutations
      178. Mitochondrial Respiratory Chain Disorders
      179. Mixed T- and B-Lymphocyte Deficiency Disorders
      180. Molecular Biology of Small Heat Shock Proteins associated with Peripheral Neuropathies
      181. Molecular Genetic Basis of Myotonic Dystrophy
      182. Molecular Genetics in Acromegaly
      183. Molecular Genetics of 21-Hydroxylase Deficiency
      184. Molecular Genetics of Achondroplasia
      185. Molecular Genetics of Alkaptonuria
      186. Molecular Genetics of Analbuminaemia
      187. Molecular Genetics of Aniridia
      188. Molecular Genetics of Aortic Aneurysms and Aortic Dissections
      189. Molecular Genetics of Argininosuccinic Aciduria
      190. Molecular Genetics of Barth Syndrome
      191. Molecular Genetics of Cataract
      192. Molecular Genetics of CHARGE Syndrome
      193. Molecular Genetics of Chediak–Higashi Syndrome
      194. Molecular Genetics of Cherubism
      195. Molecular Genetics of Choroideremia
      196. Molecular Genetics of Chronic Pancreatitis
      197. Molecular Genetics of Coeliac Disease
      198. Molecular Genetics of Cohesinopathies
      199. Molecular Genetics of Congenital Adrenal Hyperplasia
      200. Molecular Genetics of Congenital Diaphragmatic Hernia
      201. Molecular Genetics of Congenital Myasthenic Syndromes
      202. Molecular Genetics of Costello Syndrome
      203. Molecular Genetics of Creutzfeldt–Jakob Disease and Gerstmann– Sträussler– Scheinker Disease
      204. Molecular Genetics of Cystinuria
      205. Molecular Genetics of Dilated Cardiomyopathy
      206. Molecular Genetics of Dravet Syndrome
      207. Molecular Genetics of Dystrophinopathies
      208. Molecular Genetics of Ehlers–Danlos Syndrome
      209. Molecular Genetics of Familial Cerebral Cavernous Malformations
      210. Molecular Genetics of Fanconi Anaemia
      211. Molecular Genetics of Galactosaemia
      212. Molecular Genetics of Gitelman Syndrome
      213. Molecular Genetics of Hereditary Folate Malabsorption
      214. Molecular Genetics of Hermansky–Pudlak Syndrome
      215. Molecular Genetics of Holt–Oram Syndrome
      216. Molecular Genetics of Human Congenital Limb Malformations
      217. Molecular Genetics of Human Facial Dysostoses
      218. Molecular Genetics of Hypobetalipoproteinaemia and Abetalipoproteinaemia
      219. Molecular Genetics of Hypophosphatasia
      220. Molecular Genetics of Incontinentia Pigmenti
      221. Molecular Genetics of Inherited Glucocorticoid Deficiency
      222. Molecular Genetics of Joubert Syndrome
      223. Molecular Genetics of Kabuki Syndrome
      224. Molecular Genetics of LEOPARD Syndrome
      225. Molecular Genetics of Limb-Girdle Muscular Dystrophies
      226. Molecular Genetics of Malignant Mesothelioma
      227. Molecular Genetics of Mantle Cell Lymphoma
      228. Molecular Genetics of Multiple Osteochondromas
      229. Molecular Genetics of MUTYH-Associated Polyposis
      230. Molecular Genetics of Myelodysplastic Syndromes
      231. Molecular Genetics of Myopathies Caused by β-Tropomyosin Mutations
      232. Molecular Genetics of Nail–Patella Syndrome
      233. Molecular Genetics of Nasopharyngeal Carcinoma
      234. Molecular Genetics of Nemaline Myopathy
      235. Molecular Genetics of OXPHOS Disorders
      236. Molecular Genetics of Paget's Disease of Bone
      237. Molecular Genetics of Pancreatic Endocrine Tumours
      238. Molecular Genetics of Primary Ciliary Dyskinesia
      239. Molecular Genetics of Pulmonary Hypertension
      240. Molecular Genetics of Saethre–Chotzen Syndrome
      241. Molecular Genetics of Sarcoidosis
      242. The Molecular Genetics of Schwannomatosis
      243. Molecular Genetics of Simpson-Golabi-Behmel Syndrome Type 1
      244. Molecular Genetics of Skeletal Muscle Channelopathies
      245. Molecular Genetics of Sleep Disorders
      246. Molecular Genetics of Stüve–Wiedemann Syndrome
      247. Molecular Genetics of the Fibrillinopathies
      248. Molecular Genetics of the IPEX Syndrome
      249. Molecular Genetics of the Neuronal Ceroid Lipofuscinoses
      250. Molecular Genetics of Williams–Beuren Syndrome
      251. Molecular Genetics of Wilson Disease
      252. Molecular Genetics of X-linked Adrenoleukodystrophy
      253. Molecular Machines and Human Disorders
      254. Molecular Mechanisms Underlying Pathogenic Missense Mutations
      255. Monogenic Hypercholesterolemia: Genetics
      256. Mosaicism
      257. Mouse N-ethyl-N-nitrosourea (ENU) Mutagenesis
      258. Mucopolysaccharide Storage Disorders
      259. Multiple Endocrine Neoplasia Type 2
      260. Multiple Endocrine Neoplasias
      261. Multiple Sclerosis (MS): Genetics
      262. Mutagenesis Mechanisms
      263. You have free access to this content
      264. Mutation Nomenclature
      265. Mutation Rate: Sex Biases
      266. Mutations and the Genetic Code
      267. Mutations in Human Genetic Disease
      268. Mutations: Penetrance
      269. Neurofibromatosis Type 2 Clinics and Genetics
      270. Non-B DNA Structure and Mutations Causing Human Genetic Disease
      271. Nonsense Mutations and Suppression
      272. Nonsense Mutations Causing Inherited Diseases: Therapeutic Approaches
      273. Nonsense-mediated mRNA Decay
      274. Noonan Syndrome
      275. NSD1, EZH2 and DNMT3A Overgrowth Genes and Their Associated Overgrowth Syndromes
      276. Nucleotide Excision Repair in Eukaryotes
      277. Nucleotide Synthesis via Salvage Pathway
      278. Organic Acid Metabolism: Genetic Disorders
      279. Ornithine Transcarbamylase Deficiency: Genetics
      280. Pancreatic Cancer: Molecular Genetics and Clinical Applications
      281. Paroxysmal Nocturnal Hemoglobinuria
      282. Path Analysis in Genetic Epidemiology
      283. Pathogenesis of Polyglutamine Diseases
      284. Pathogenetic Mechanisms in Alagille Syndrome
      285. Pathological Mutations in 5′ Untranslated Regions of Human Genes
      286. Pathological Variations in 3′-untranslated Regions of Human Genes
      287. Peroxisome Biogenesis Disorders
      288. Phenylketonuria
      289. Pituitary Gene Signalling Pathway
      290. Plakin Proteins, Hemidesmosomes and Human Disease
      291. Plant Storage Products (Carbohydrates, Oils and Proteins)
      292. Platelets and Their Disorders
      293. Polycystic Disease of the Kidney
      294. Polyploidy
      295. Position Effect Variegation in Human Genetic Disease
      296. Posttranslational Modification and Human Disorders
      297. Potassium Channels
      298. Prostate Cancer
      299. Proteases and Human Disorders
      300. Protein Disorder and Human Genetic Disease
      301. Protein Interaction and Genetic Disease
      302. Protein Misfolding and Degradation in Genetic Disease
      303. Proteins: Mutational Effects in
      304. Proteoglycans
      305. Pulmonary Disorders: Hereditary
      306. Receptors and Human Disorders
      307. Red Cell Membrane and Transport Systems: Hereditary Disorders
      308. Relevance of Copy Number Variation to Human Genetic Disease
      309. Renal Ciliopathies
      310. Renal Fanconi Syndrome
      311. Renal Tubular Disorders
      312. Repetitive Elements and Human Disorders
      313. Retinoblastoma
      314. Retrotransposons and Human Disease
      315. Ribosomes and Ribosomal Proteins: More Than Just ‘Housekeeping’
      316. RNA Editing and Human Disorders
      317. RNA Processing and Human Disorders
      318. RNA Therapy for Polyglutamine Neurodegenerative Diseases
      319. Role of Plakins in Human Genetic Disease
      320. Schizophrenia and 22q11.2 Deletion Syndrome
      321. Segmental Duplications and Genetic Disease
      322. Severe Combined Immune Deficiency (SCID): Genetics
      323. Short Interspersed Elements (SINEs)
      324. Single Nucleotide Polymorphism (SNP)
      325. Skin Pigmentation: Genetics
      326. Somatic Mutations in Polycythaemia Vera and Other Philadelphia Chromosome Negative Myeloproliferative Neoplasms
      327. Spinal Muscular Atrophy
      328. Splicing Modulation as Therapy for Human Genetic Disease
      329. Spontaneous Function Correction of Pathogenic Alleles in Inherited Diseases Resulting in Somatic Mosaicism
      330. Subcellular Protein Localisation in Health and Disease
      331. Syndromes and Diseases Associated with the Notch Signalling Pathway
      332. Synonymous Mutations as a Cause of Human Genetic Disease
      333. Systemic Lupus Erythematosus: Genetic and Epigenetic View
      334. Tay–Sachs Disease
      335. Telomeres and Telomerase in Ageing and Cancer
      336. Testicular Cancer
      337. Thalassaemias
      338. Thalassemias
      339. Thrifty Genotype Hypothesis and Complex Genetic Disease
      340. Thymidylate Synthesis
      341. Titin Gene (TTN)
      342. Transcription-coupled DNA Repair
      343. The Transcription/DNA Repair Factor TFIIH
      344. Transcriptional Channelopathies of the Nervous System
      345. Transposons as Natural and Experimental Mutagens
      346. Transposons in Eukaryotes (Part B): Genomic Consequences of Transposition
      347. Trinucleotide Repeat Expansions: Disorders
      348. Trinucleotide Repeat Expansions: Mechanisms and Disease Associations
      349. Tuberous Sclerosis: Genetics
      350. Upstream Open Reading Frames and Human Genetic Disease
      351. 3′ UTR Mutations and Human Disorders
      352. Venous Thrombosis: Genetics
      353. Vitamin B12: Disorders of Absorption and Metabolism
      354. Vitelline Macular Dystrophy
      355. X-Linked Intellectual Disability Genetics
    21. Pharmacogenetics and Pharmacogenomics
    22. Proteomic Studies of Genetic Disease
    23. Quantitative Genetics
    24. Specific Genetic Disorders
    25. Statistical Methodology in Genetics
    26. Techniques and Tools in Clinical Genetics
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