Literature DB >> 16965439

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.

S Suzuki1, Y Shimomura, Y Yamamoto, N Kariya, M Shibuya, M Ito, H Fujiwara.   

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Year:  2006        PMID： 16965439     DOI： 10.1111/j.1365-2133.2006.07397.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  2 in total

1.  A rare homozygous missense mutation of COL7A1 in a Vietnamese family.

Authors:  Nguyen Thuy Duong; Luong Thi Lan Anh; Nguyen Huu Sau; Nguyen Bao Anh; Noriko Miyake; Nong Van Hai; Naomichi Matsumoto
Journal:  Hum Genome Var       Date:  2022-05-17

2.  A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.

Authors:  Armita Kakavand Hamidi; Mohammad Moghaddam; Nasim Hatamnejadian; Ahmad Ebrahimi
Journal:  Iran J Basic Med Sci       Date:  2016-08       Impact factor: 2.699
  2 in total

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