Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

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Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa

Published:2005-12 Issue:3 Volume:338 Page:1391-1401
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Posteraro Patrizia,Pascucci Monica,Colombi Marina,Barlati Sergio,Giannetti Alberto,Paradisi Mauro,Mustonen Aki,Zambruno Giovanna,Castiglia Daniele

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference42 articles.

1. Epidermolysis bullosa;Anton-Lamprecht,2002

2. 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

3. Cloning of human type VII collagen;Christiano;J. Biol. Chem.,1994

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

5. Difference in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations;Murata;Arch. Dermatol. Res.,2004

Cited by 22 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. <b><i>COL7A1</i></b> Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus;Molecular Syndromology;2022

2. Dominant pretibial dystrophic epidermolysis bullosa in an Italian family;Pediatric Dermatology;2020-08-25

3. A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability — Implications for the pathogenesis of recessive dystrophic epidermolysis bullosa?;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2017-01

4. Recessive Bullous Dermolysis of the Newborn in Preterm Siblings with a Missense Mutation in Type VII Collagen;Pediatric Dermatology;2015-01-30

5. COL7A1 and Its Role in Dystrophic Epidermolysis Bullosa;Blistering Diseases;2015

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