Linked Life Data

9001799

Source:http://linkedlifedata.com/resource/pubmed/id/9001799

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-3-26
pubmed:abstractText
Mutations of the human androgen receptor gene may disturb sexual development in males, and are inherited as an X-linked recessive trait. The vast majority of the mutations are familial. We have identified a large kindred with complete androgen insensitivity syndrome (CAIS) without detectable androgen-binding in genital skin fibroblasts. A single nucleotide substitution (C-to-T transition) was identified, resulting in an Arg855 to Cys in the androgen binding domain. To date, four independent CAIS families have been reported with this specific mutation that coincides with the propensity of cytosines at CpG dinucleotides to methylate. An allele-specific oligo-nucleotide assay was developed that allowed for the rapid and specific identification of this mutation hot-spot in individuals with androgen receptor insensitivity syndromes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
202-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Rapid detection of a mutation hot-spot in the human androgen receptor.
pubmed:affiliation
Beijer Laboratory, Department of Medical Genetics, Uppsala University, Sweden.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't