Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1998

Volume 11, Issue 5

Pages 345–414

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Chemical cleavage of mismatch: A new look at an established method (pages 345–353)

      Timothy P. Ellis, Karen E. Humphrey, Margaret J. Smith and Richard G. H. Cotton

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<345::AID-HUMU1>3.0.CO;2-0

  2. Research Articles

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations (pages 354–359)

      Marisel De Lucca, Belén Pérez, Lourdes R. Desviat and Magdalena Ugarte

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W

    2. Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging (pages 360–371)

      Chunfang Zhang, Vincent W. S. Liu, Corrado L. Addessi, David A. Sheffield, Anthony W. Linnane and Phillip Nagley

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<360::AID-HUMU3>3.0.CO;2-U

    3. Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern (pages 372–376)

      John A. Heit, Erik C. Thorland, Rhett P. Ketterling, Tammy J. Lind, Todd M. Daniels, Renee Eyzaguirre Zapata, Saul Mendoza Ordonez, Carol K. Kasper and Steve S. Sommer

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<372::AID-HUMU4>3.0.CO;2-M

    4. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes (pages 377–386)

      Kaoru Wataya, Jun Akanuma, Patrizia Cavadini, Yoko Aoki, Shigeo Kure, Federica Invernizzi, Ichiro Yoshida, Jun-ichi Kira, Franco Taroni, Yoichi Matsubara and Kuniaki Narisawa

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E

    5. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss (pages 387–394)

      DA Scott, ML Kraft, R Carmi, A Ramesh, K Elbedour, Y Yairi, C. R. Srikumari Srisailapathy, SS Rosengren, AF Markham, RF Mueller, NJ Lench, G Van Camp, RJH Smith and VC Sheffield

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8

    6. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen (pages 395–403)

      Adriana P. Sarafova, Hyeon Choi, Antonella Forlino, Anna Gajko, Wayne A. Cabral, Laura Tosi, C. Michael Reing and Joan C. Marini

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<395::AID-HUMU7>3.0.CO;2-4

  3. Methods

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Rapid, efficient method for multiplex amplification from filter paper (pages 404–409)

      Michele Caggana, James M. Conroy and Kenneth A. Pass

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<404::AID-HUMU8>3.0.CO;2-S

  4. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis (page 410)

      Guglielmo R. D. Villani, Nicola Balzano and Paola Di Natale

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q

    2. Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States (page 410)

      Karen J. Norrgard, Robert J. Pomponio, Katie L. Swango, Jeanne Hymes, Thomas Reynolds, Gregory A. Buck and Barry Wolf

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8

    3. Analysis of CpG C-to-T mutations in neurofibromatosis type 1 (page 411)

      Sofia Krkljus, Corinne R. Abernathy, Jennifer S. Johnson, Charles A. Williams, Daniel J. Driscoll, Roberto Zori, Heather J. Stalker, Sonja A. Rasmussen, Francis S. Collins, Boris G. Kousseff, Lisa Baumbach and Margaret R. Wallace

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2

    4. Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus (page 411)

      Sandra Mammarella, Beatrice Creati, Diana L. Esposito, Paola Arcuri, Fulvio Della Loggia, Fabio Capani, Renato Mariani-Costantini, Felice Giacomo Caramia, Pasquale Battista and Alessandro Cama

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU12>3.0.CO;2-#

    5. A novel mutation (V191G) in a German-British type 1 Gaucher disease patient (pages 411–412)

      Francis Y. M. Choy, M. Lisa Humphries and Yoav Ben-Yoseph

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU13>3.0.CO;2-X

    6. α-thalassaemia due to a single codon deletion in the α-1-globin gene. Computational structural analysis of the new α-chain variant (page 412)

      Sonia Ayala, Dolors Colomer, Josep Lluís Gelpí and Joan Lluís Vives Corrons

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU14>3.0.CO;2-R

    7. Identification of cystic fibrosis mutations in the United Arab Emirates (pages 412–413)

      Philippe M. Frossard, Emmanuelle Girodon, Kenneth P. Dawson, Nada Ghanem, François Plassa, Gilles G. Lestringant and Michel Goossens

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU15>3.0.CO;2-O

    8. The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II (page 413)

      Clare E. Beesley, Anne H. Child and Magdi H. Yacoub

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I

    9. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia (page 413)

      Ana Cenarro, Henrik K. Jensen, Elena Casao, Fernando Civeira, José González-Bonillo, José C. Rodríguez-Rey, Niels Gregersen and Miguel Pocoví

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU17>3.0.CO;2-F

    10. The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer (pages 413–414)

      Véronique Vidal, Jacques-Olivier Bay, Françoise Champomier, Maria Grancho, Laurence Beauville, Cécile Glowaczower, Didier Lemery, Marc Ferrara and Yves-Jean Bignon

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU18>3.0.CO;2-C

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