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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2010-7-8
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pubmed:abstractText |
To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic analysis and to determine the prevalence of exon 1 mutations in the androgen receptor (AR) transactivation defects of a large series of CAIS patients.
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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:month |
Jul
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pubmed:issn |
1556-5653
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pubmed:author |
pubmed-author:AudranFrançoiseF,
pubmed-author:BouchardPhilippeP,
pubmed-author:Dacou-VoutetakisCatherineC,
pubmed-author:FloriElisabethE,
pubmed-author:GuedjAnne-MarieAM,
pubmed-author:Hecart-BrunaAnnie-ClaudeAC,
pubmed-author:HeinrichClaudineC,
pubmed-author:JosephMarie-GenevièveMG,
pubmed-author:JournelHubertH,
pubmed-author:KhotchaliInesI,
pubmed-author:KohlerBirgitB,
pubmed-author:MorangeIsabelleI,
pubmed-author:ParisFrançoiseF,
pubmed-author:PhilibertPascalP,
pubmed-author:PienkowskiCatherineC,
pubmed-author:SultanCharlesC,
pubmed-author:TenSvetlanaS
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pubmed:copyrightInfo |
Copyright 2010. Published by Elsevier Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
472-6
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pubmed:meshHeading |
pubmed-meshheading:19463997-Alternative Splicing,
pubmed-meshheading:19463997-Androgen-Insensitivity Syndrome,
pubmed-meshheading:19463997-Codon, Nonsense,
pubmed-meshheading:19463997-Cohort Studies,
pubmed-meshheading:19463997-Cooperative Behavior,
pubmed-meshheading:19463997-Exons,
pubmed-meshheading:19463997-Female,
pubmed-meshheading:19463997-Humans,
pubmed-meshheading:19463997-International Cooperation,
pubmed-meshheading:19463997-Male,
pubmed-meshheading:19463997-Prevalence,
pubmed-meshheading:19463997-Receptors, Androgen,
pubmed-meshheading:19463997-Retrospective Studies
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pubmed:year |
2010
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pubmed:articleTitle |
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
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pubmed:affiliation |
Service d'Hormonologie, Hôpital Lapeyronie, CHU de Montpellier, Montpellier, France.
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pubmed:publicationType |
Journal Article
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