Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa-Reference-Cited by-同舟云学术

Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa

Published:1999-06 Issue:6 Volume:112 Page:984-987
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Mellerio Jemima E.,Ashton Gabrielle H.S.,Mohammedi Rafik,Eady Robin A.J.,McGrath John A.,Lyon Calum C.,Kirby Brian,Harman Karen E.,Salas-Alanis Julio C.,Atherton David J.,Harrison Phillip V.,Griffiths W. Andrew D.,Black Martin M.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference29 articles.

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3. Genetic basis of Bart’s syndrome: a glycine substitution in the type VII collagen gene;Christiano;J Invest Dermatol,1996

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

5. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple helical domain of type VII collagen;Christiano;Hum Mol Genet,1995

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