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.

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

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

J Invest Dermatol ; 112(6): 991-3, 1999 Jun.

Article in En | MEDLINE | ID: mdl-10383751

Subject(s)

Collagen/genetics; Epidermolysis Bullosa Dystrophica/genetics; Adult; Alleles; Codon/genetics; Epidermolysis Bullosa Dystrophica/epidemiology; Genetic Variation; Humans; Japan/epidemiology; Male; Mutation; Point Mutation; Severity of Illness Index

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Collection: 01-internacional Database: MEDLINE Main subject: Epidermolysis Bullosa Dystrophica / Collagen Limits: Adult / Humans / Male Country/Region as subject: Asia Language: En Journal: J Invest Dermatol Year: 1999 Document type: Article Country of publication: United States

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