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There are 568715 results for: content related to: A novel missense mutation of ATP 2 A 2 gene in a C hinese family with D arier disease

  1. Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene

    Haemophilia

    Volume 20, Issue 6, November 2014, Pages: e436–e438, A. Wang, X. Liu, J. Wu, X. Cai, W. Zhu and Z. Sun

    Version of Record online : 30 OCT 2014, DOI: 10.1111/hae.12549

  2. Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 401–403, Takamichi Kanbayashi, Fumiaki Saito, Takashi Matsukawa, Hiroshi Oba, Keiichi Hokkoku, Yuki Hatanaka, Shoji Tsuji and Masahiro Sonoo

    Version of Record online : 20 JAN 2015, DOI: 10.1111/cge.12554

  3. Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum

    Journal of the European Academy of Dermatology and Venereology

    Volume 30, Issue 9, September 2016, Pages: 1629–1631, N. Oyama, M. Matsuda, T. Hamada, S. Numata, K. Teye, T. Hashimoto and M. Hasegawa

    Version of Record online : 21 SEP 2015, DOI: 10.1111/jdv.13231

  4. Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype

    The Journal of Dermatology

    Volume 41, Issue 10, October 2014, Pages: 939–940, Nagisa Yoshihara, Hajime Nakano, Daisuke Sawamura and Shigaku Ikeda

    Version of Record online : 16 SEP 2014, DOI: 10.1111/1346-8138.12621

  5. Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families

    International Journal of Dermatology

    Volume 53, Issue 3, March 2014, Pages: e194–e196, Michihiro Kono, Mutsumi Suganuma, Yasutomo Ito, Hideyuki Ujiie, Kenichi Morimoto and Masashi Akiyama

    Version of Record online : 28 APR 2013, DOI: 10.1111/j.1365-4632.2012.05765.x

  6. Multiple familial trichoepithelioma: report of a Chinese family not associated with a mutation in the CYLD gene and CYLD protein expression in the trichoepithelioma tumor tissue

    International Journal of Dermatology

    Volume 53, Issue 4, April 2014, Pages: e279–e281, Xiao-yan Zhao, Yi-jin Huang, Yan-hua Liang, Liang Huang, Yan Zhao and Kang Zeng

    Version of Record online : 24 JUL 2013, DOI: 10.1111/ijd.12153

  7. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome

    Clinical Genetics

    N. Miyake, S. Ozasa, H. Mabe, S. Kimura, M. Shiina, E. Imagawa, S. Miyatake, M. Nakashima, T. Mizuguchi, A. Takata, K. Ogata and N. Matsumoto

    Version of Record online : 4 OCT 2017, DOI: 10.1111/cge.13105

  8. Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria

    Haemophilia

    Volume 21, Issue 2, March 2015, Pages: e144–e146, E. P. Sukarova Stefanovska, G. Bozinovski, Z. Trajkova-Antevska, V. Dejanova-Ilijevska, G. Petkov and D. A. Plaseska-Karanfilska

    Version of Record online : 13 JAN 2015, DOI: 10.1111/hae.12620

  9. Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma

    The Journal of Dermatology

    Volume 40, Issue 7, July 2013, Pages: 581–582, Yoshitaka Shimizu, Kazumitsu Sugiura, Yumi Aoyama, Yasushi Ogawa, Kiyotaka Hitomi, Keiji Iwatsuki and Masashi Akiyama

    Version of Record online : 19 MAY 2013, DOI: 10.1111/1346-8138.12169

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    Novel missense mutation in the COL3A1 gene caused vascular Ehlers–Danlos syndrome in a Chinese family

    The Journal of Dermatology

    Volume 42, Issue 1, January 2015, Pages: 95–96, Fang He, Xianwei Wang, Xinzhang Cai, Hao Peng, Lusi Zhang, Tengfei Zhu, Kun Xia, Qian Pan and Zhengmao Hu

    Version of Record online : 25 NOV 2014, DOI: 10.1111/1346-8138.12696

  11. Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia

    International Journal of Dermatology

    Volume 54, Issue 7, July 2015, Pages: 790–794, Glustein Pozo-Molina, Julia Reyes-Reali, María Isabel Mendoza-Ramos, Rafael Villalobos-Molina, Efraín Garrido-Guerrero and Adolfo René Méndez-Cruz

    Version of Record online : 27 JAN 2015, DOI: 10.1111/ijd.12775

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    Spanish family study on hereditary breast and/or ovarian cancer: Analysis of the BRCA1 gene

    International Journal of Cancer

    Volume 91, Issue 1, 1 January 2001, Pages: 137–140, Miguel de la Hoya, Pedro Pérez-Segura, Nathalie Van Orsouw, Eduardo Díaz-Rubio and Trinidad Caldés

    Version of Record online : 8 DEC 2000, DOI: 10.1002/1097-0215(20010101)91:1<137::AID-IJC1020>3.0.CO;2-R

  13. Identification of two novel missense mutations causing severe factor XIII deficiency

    Haemophilia

    Volume 21, Issue 3, May 2015, Pages: e253–e256, H. Handrkova, M. Borhany, V. Schroeder, N. Fatima, A. Hussain, T. Shamsi and H. P. Kohler

    Version of Record online : 31 MAR 2015, DOI: 10.1111/hae.12663

  14. Identification of a novel mutation confirms phenotypic variability of mutant XPG truncations

    International Journal of Dermatology

    Volume 56, Issue 7, July 2017, Pages: e149–e151, Yongjia Yang, Xu Yao, Yongqi Luo, Liu Zhao, Bin Zhou, Ming Tu and Rui Zhao

    Version of Record online : 2 MAR 2017, DOI: 10.1111/ijd.13554

  15. Spectrum of mutations in Indian patients with fibrinogen disorders and its application in genetic diagnosis of the affected families

    Haemophilia

    Volume 21, Issue 6, November 2015, Pages: e519–e523, A. Mukaddam, B. Kulkarni, A. Jadli, K. Ghosh and S. Shetty

    Version of Record online : 17 AUG 2015, DOI: 10.1111/hae.12788

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    FLG mutations in the East Asian atopic dermatitis patients: genetic and clinical implication

    Experimental Dermatology

    Volume 25, Issue 10, October 2016, Pages: 816–818, Kapsok Li, Won Jong Oh, Kui Young Park, Kyu-Han Kim and Seong Jun Seo

    Version of Record online : 13 JUL 2016, DOI: 10.1111/exd.13063

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    Infrequent occurrence of MPL exon 10 mutations in polycythemia vera and post-polycythemia vera myelofibrosis

    American Journal of Hematology

    Volume 86, Issue 8, August 2011, Pages: 701–702, Animesh Pardanani, Terra L. Lasho, Christy M. Finke and Ayalew Tefferi

    Version of Record online : 14 JUN 2011, DOI: 10.1002/ajh.22058

  18. Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA

    Haemophilia

    D. Böckelmann, A. Naz, M. Y. J. Siddiqi, E. Lerner, K. Sandrock-Lang, T. S. Shamsi and B. Zieger

    Version of Record online : 9 NOV 2017, DOI: 10.1111/hae.13365

  19. Spectrum of F8 gene mutations in haemophilia A patients from Slovenia

    Haemophilia

    Volume 18, Issue 6, November 2012, Pages: e420–e423, M. Debeljak, L. Kitanovski, A. Trampuš Bakija and M. Benedik Dolničar

    Version of Record online : 7 SEP 2012, DOI: 10.1111/hae.12003

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    A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient

    Acta Ophthalmologica

    Volume 94, Issue 4, June 2016, Pages: 417–418, Qihao Pan, Changxian Yi, Tingting Xu, Jinsong Liu, Xiangyi Jing, Bin Hu and Yiming Wang

    Version of Record online : 7 NOV 2015, DOI: 10.1111/aos.12854