Literature DB >> 11843659

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.

Kazuko C Sato-Matsumura, Kana Yasukawa, Yuki Tomita, Hiroshi Shimizu.   

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Year:  2002        PMID： 11843659     DOI： 10.1001/archderm.138.2.269

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


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  3 in total

1.  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

2.  SERPINB11 frameshift variant associated with novel hoof specific phenotype in Connemara ponies.

Authors:  Carrie J Finno; Carlynn Stevens; Amy Young; Verena Affolter; Nikhil A Joshi; Sheila Ramsay; Danika L Bannasch
Journal:  PLoS Genet       Date:  2015-04-13       Impact factor: 5.917

Review 3.  From Structure to Phenotype: Impact of Collagen Alterations on Human Health.

Authors:  Lavinia Arseni; Anita Lombardi; Donata Orioli
Journal:  Int J Mol Sci       Date:  2018-05-08       Impact factor: 5.923
  3 in total

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