Literature DB >> 10620140

Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

T Masunaga, H Shimizu, Y Takizawa, J Uitto, T Nishikawa.   

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Year:  2000        PMID： 10620140     DOI： 10.1046/j.1523-1747.2000.00848.x

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


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  1 in total

1.  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
  1 in total

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