Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility-Reference-Cited by-同舟云学术

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

Published:2016-12 Issue:6 Volume:99 Page:1395-1404
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

He Yinghong,Maier Kristin,Leppert Juna,Hausser Ingrid,Schwieger-Briel Agnes,Weibel Lisa,Theiler Martin,Kiritsi Dimitra,Busch Hauke,Boerries Melanie,Hannula-Jouppi Katariina,Heikkilä Hannele,Tasanen Kaisa,Castiglia Daniele,Zambruno Giovanna,Has Cristina

Funder

Debra International

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference47 articles.

1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J. Am. Acad. Dermatol.,2014

2. The genetics of skin fragility;Has;Annu. Rev. Genomics Hum. Genet.,2014

3. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients;Bolling;Br. J. Dermatol.,2011

4. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations;Rugg;J. Invest. Dermatol.,2007

5. Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic;Kopečková;Br. J. Dermatol.,2016

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