Clustering of COL7A1 Mutations in Exon 73: Implications for Mutation Analysis in Dystrophic Epidermolysis Bullosa-Reference-Cited by-同舟云学术

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Clustering of COL7A1 Mutations in Exon 73: Implications for Mutation Analysis in Dystrophic Epidermolysis Bullosa

Published:1999-03 Issue:3 Volume:112 Page:398-400
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Mecklenbeck Sabine,Hammami-Hauasli Nadja,Höpfner Binica,Schumann Hauke,kramer Annika,Bruckner-Tuderman Leena,Küster Wolfgang

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference14 articles.

1. Type VII collagen, anchoring fibrils, and epidermolysis bullosa;Burgeson;J Invest Dermatol,1993

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

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

4. Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa;Christiano;J Invest Dermatol,1996

5. A glycine-to-arginine substitution in the triple helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa;Christiano;J Invest Dermatol,1995

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epidemiology of epidermolysis bullosa in Chile;British Journal of Dermatology;2024-06-11

2. Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant;Clinical and Experimental Dermatology;2024-06-03

3. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16

4. Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes;Pediatric Dermatology;2021-08-02

5. QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study;Journal of Investigative Dermatology;2021-04

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