A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing-Reference-Cited by-同舟云学术

A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing

Published:2010-10-18 Issue:1 Volume:20 Page:74-76
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:

Author:

Natsuga Ken,Nishie Wataru,Shinkuma Satoru,Nakamura Hideki,Arita Ken,Yoneda Kozo,Kusaka Takashi,Yanagihara Toshihiro,Kosaki Rika,Sago Haruhiko,Akiyama Masashi,Shimizu Hiroshi

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0625.2010.01177.x/fullpdf

Reference18 articles.

1. Mutation Mechanisms

2. A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex

3. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

4. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

5. Epidermolysis Bullosa with Pyloric Atresia

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4. Identification of two rare and novel large deletions inITGB4gene causing epidermolysis bullosa with pyloric atresia;Experimental Dermatology;2016-04

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