Literature DB >> 10383751

Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.

K Tamai, T Murai, M Mayama, A Kon, K Nomura, D Sawamura, K Hanada, I Hashimoto, H Shimizu, T Masunaga, T Nishikawa, Y Mitsuhashi, A Ishida-Yamamoto, S Ikeda, H Ogawa, J A McGrath, L Pulkkinen, J Uitto.   

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Year:  1999        PMID： 10383751     DOI： 10.1046/j.1523-1747.1999.00601.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  3 in total

1.  Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Authors:  Roslyn Varki; Sara Sadowski; Jouni Uitto; Ellen Pfendner
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

2.  Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Authors:  Daisuke Sawamura; Maki Goto; Kana Yasukawa; Kazuko Sato-Matsumura; Hideki Nakamura; Kei Ito; Hiroyuki Nakamura; Yuki Tomita; Hiroshi Shimizu
Journal:  J Hum Genet       Date:  2005-09-28       Impact factor: 3.172

3.  A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.

Authors:  Hamid Galehdari; Gholamreza Mohammadian; Somayeh Azmoon; Bahaoddin Salehi; Mohammad Pedram
Journal:  J Mol Diagn       Date:  2010-02-26       Impact factor: 5.568
  3 in total

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