Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia-Reference-Cited by-同舟云学术

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia

Published:2015-06 Issue:6 Volume:135 Page:1540-1547
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Boyden Lynn M.,Craiglow Brittany G.,Zhou Jing,Hu Ronghua,Loring Erin C.,Morel Kimberly D.,Lauren Christine T.,Lifton Richard P.,Bilguvar Kaya,Paller Amy S.,Choate Keith A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference28 articles.

1. Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150;Akicyama;Biochem Biophys Res Commun,2005

2. Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging;Alao;Eur J Med Genet,2010

3. Connexins in wound healing; perspectives in diabetic patients;Becker;Biochim Biophys Acta,2012

4. Clinical and genetic heterogeneity of erythrokeratoderma variabilis;Common;J Invest Dermatol,2005

5. Erythrokeratoderma variabilis caused by a recessive mutation in GJB3;Fuchs-Telem;Clin Exp Dermatol,2011

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