Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity-Reference-Cited by-同舟云学术

Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity

Published:1999-06 Issue:6 Volume:112 Page:991-993
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Tamai Katsuto,Murai Takaya,Mayama Mamiko,Kon Atsushi,Nomura Kazuo,Sawamura Daisuke,Hanada Katsumi,Hashimoto Isao,Shimizu Hiroshi,Masunaga Takuji,Nishikawa Takeji,Mitsuhashi Yoshihiko,Ishida-Yamamoto Akemi,Ikeda Shigaku,Ogawa Hideoki,McGrath John A.,Pulkkinen Leena,Uitto Jouni

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference12 articles.

1. Strategy for identification of sequence variants in COL7A1, and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Human Mut,1997

2. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa;Christiano;J Clin Invest,1995

3. Impact of molecular genetic diagnosis on dystrophic epidermolysis bullosa;Christiano;Current Opinion Dermatol,1996

4. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa;Christiano;Exp Derm,1996

5. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry;Fine;J Am Acad Dermatol,1991

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