Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2133.2002.04914.x/fullpdf
Reference27 articles.
1. Revised classification system for inherited epidermolysis bullosa
2. Type VII Collagen, Anchoring Fibrils, and Epidermolysis Bullosa
3. Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.
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3. Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families;Frontiers of Medicine;2022-03-21
4. Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review;Clinical Genetics;2020-06-29
5. Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing;Acta Dermato Venereologica;2020
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