A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa-Reference-Cited by-同舟云学术

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A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa

Published:1995-03 Issue:3 Volume:104 Page:438-440
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Christiano Angela M.,Morricone Alessandra,Paradisi Mauro,Angelo Corrado,Mazzanti Cinzia,Cavalieri Rino,Uitto Jouni

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference14 articles.

1. Epidermolysis Bullosa. Basic and Clinical Aspects;Lin,1992

2. 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

3. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases;Uitto;J Clin Invest,1992

4. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression;McGrath;J Invest Dermatol,1993

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

Cited by 51 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. 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

2. The Human Extracellular Matrix Diseasome Reveals Genotype–Phenotype Associations with Clinical Implications for Age-Related Diseases;Biomedicines;2023-04-19

3. A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa;Clinical and Experimental Obstetrics & Gynecology;2020

4. The triple helix of collagens – an ancient protein structure that enabled animal multicellularity and tissue evolution;Journal of Cell Science;2018-04-01

5. A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa;Pediatric Dermatology;2018-01-15

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