Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

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Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal development of teeth, hair, and eccrine sweat glands. The gene responsible for this disorder, EDA1, was identified by isolation of a single cDNA that was predicted to encode a 135-amino-acid protein. Mutations in this splice form were detected in

Original languageEnglish (US)
Pages (from-to)380-389
Number of pages10
JournalAmerican Journal of Human Genetics
Volume63
Issue number2
DOIs
StatePublished - Aug 1998

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Anhidrotic Ectodermal Dysplasia 1
Eccrine Glands
Ectodermal Dysplasia
Sweat Glands
Tooth
Complementary DNA
Amino Acids
Mutation
Genes
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

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abstract = "X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal development of teeth, hair, and eccrine sweat glands. The gene responsible for this disorder, EDA1, was identified by isolation of a single cDNA that was predicted to encode a 135-amino-acid protein. Mutations in this splice form were detected in",
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