Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients-Reference-Cited by-同舟云学术

Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

Published:2001-06 Issue:2 Volume:26 Page:125-132
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Ryoo Young-Wook,Kim Byung-Chun,Lee Kyu-Suk

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference28 articles.

1. Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene;Uitto;Arch. Dermatol. Res.,1994

2. Molecular basis of the dystrophic and junctional forms of epidermolysis of bullosa: mutations in the type VII collagen and kalinin (laminin-5) genes;Uitto;J. Invest. Dermatol.,1994

3. Molecular basis of dystrophic epidermolysis bullosa: mutation in the type VII ollagen gene (COL7A1);Jarvikallio;Hum. Mutat.,1997

4. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene;Parente;Proc. Natl. Acad. Sci. USA,1991

5. Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene;Christiano;Genomics,1994

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1. 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

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

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

4. Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene;Journal of the European Academy of Dermatology and Venereology;2014-10-03

5. The Cysteine-rich Region of Type VII Collagen Is a Cystine Knot with a New Topology;Journal of Biological Chemistry;2014-02