A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference5 articles.
1. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats;Bayés;Hum Mol Genet,1998
2. The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain;Copley;J Mol Med,1999
3. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein;Kere;Nature Genet,1996
4. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations;Monreal;Am J Hum Genet,1998
5. Mendelian Inheritance in Man;Muksickva,1994
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1. A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family;Journal of the European Academy of Dermatology and Venereology;2014-09-30
2. Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations;European Journal of Medical Genetics;2011-07
3. 9 Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
4. Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
5. Two Novel Mutations in the ED1 Gene in Japanese Families With X-Linked Hypohidrotic Ectodermal Dysplasia;Pediatric Research;2009-04
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