Literature DB >> 10469344

Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.

H Shimizu, N Hammami-Hauasli, N Hatta, T Nishikawa, L Bruckner-Tuderman.   

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Year:  1999        PMID： 10469344     DOI： 10.1046/j.1523-1747.1999.00713.x

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


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  4 in total

1.  COL7A1 mutation G2037E causes epidermal retention of type VII collagen.

Authors:  Daisuke Sawamura; Kazuko Sato-Matsumura; Satoko Shibata; Akari Tashiro; Masutaka Furue; Maki Goto; Kaori Sakai; Masashi Akiyama; Hideki Nakamura; Hiroshi Shimizu
Journal:  J Hum Genet       Date:  2006-03-24       Impact factor: 3.172

2.  [The many facets of inherited skin fragility].

Authors:  C Has; D Kiritsi
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

3.  Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient.

Authors:  Jae-We Cho; Hajime Nakano; Kyu-Suk Lee
Journal:  J Korean Med Sci       Date:  2009-04-20       Impact factor: 2.153

4.  Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.

Authors:  Ying Lin; Xue-Jun Chen; Wei Liu; Bo Gong; Jun Xie; Jun-Hao Xiong; Jing Cheng; Xi-Ling Duan; Zhao-Chun Lin; Lu-Lin Huang; Hui-Ying Wan; Xiao-Qi Liu; Lin-Hong Song; Zheng-Lin Yang
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240
  4 in total

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