The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa

Published:2004-05 Issue:3 Volume:34 Page:195-200
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Nakamura Hiroyuki,Sawamura Daisuke,Goto Maki,Sato-Matsumura Kazuko C,LaDuca Jeffrey,Lee Julia Yu-Yun,Masunaga Takuji,Shimizu Hiroshi

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference23 articles.

1. Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa;Fine;J. Am. Acad. Dermatol.,2000

2. Molecular genetics of heritable blistering disorders;Uitto;Arch. Dermatol.,2001

3. Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa;Uitto;Proc. Assoc. Am. Phys.,1995

4. Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity;Shimizu;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 30 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. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16

2. Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity;Diagnostics;2022-05-27

3. Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum;European Journal of Medical Genetics;2021-12

4. Neonatal epidermolysis bullosa: lessons to learn about genetic counseling;Journal of Dermatological Treatment;2020-11-02

5. Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa;International Journal of Dermatology;2020-06-07