A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma-Reference-Cited by-同舟云学术

A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma

Published:2010-12-23 Issue:1 Volume:50 Page:52-56
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:

Author:

Huang Lin,Wong Yim-Ping,Burd Andrew

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2010.04642.x/fullpdf

Reference11 articles.

1. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa;Dang;Exp Dermatol,2008

2. RDEB: regeneration is not enough;Burd;J Plast Reconstr Aesthet Surg,2008

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

4. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes;Varki;J Med Genet,2007

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

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2. Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa;Molecular Genetics & Genomic Medicine;2020-06-14

3. Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa;Medicine;2018-12

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

5. Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand;Acta Dermato Venereologica;2018