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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2010-3-4
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pubmed:abstractText |
Hypohidrotic ectodermal dysplasia is a rare congenital disorder that results in abnormalities in the structures of ectodermal origin: hair, teeth, and eccrine sweat glands. DNA sequence analysis of EDAR gene in a Pakistani family, demonstrating autosomal recessive form of hypohidrotic ectodermal dysplasia, identified a novel homozygous mutation affecting splice donor site of exon 5 [IVS5+1G > or = C] of the gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1525-1470
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
106-8
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pubmed:dateRevised |
2011-1-11
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pubmed:meshHeading |
pubmed-meshheading:20199431-Base Sequence,
pubmed-meshheading:20199431-Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive,
pubmed-meshheading:20199431-Edar Receptor,
pubmed-meshheading:20199431-Exons,
pubmed-meshheading:20199431-Family Health,
pubmed-meshheading:20199431-Female,
pubmed-meshheading:20199431-Genes, Recessive,
pubmed-meshheading:20199431-Haplotypes,
pubmed-meshheading:20199431-Homozygote,
pubmed-meshheading:20199431-Humans,
pubmed-meshheading:20199431-Male,
pubmed-meshheading:20199431-Pakistan,
pubmed-meshheading:20199431-Pedigree,
pubmed-meshheading:20199431-Phenotype,
pubmed-meshheading:20199431-Point Mutation,
pubmed-meshheading:20199431-RNA Splice Sites
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pubmed:articleTitle |
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
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pubmed:affiliation |
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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