|
rdf:type |
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lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0034786,
umls-concept:C0205314,
umls-concept:C0267672,
umls-concept:C0337514,
umls-concept:C0679622,
umls-concept:C0936016,
umls-concept:C1514562,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
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pubmed:issue |
2
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pubmed:dateCreated |
2011-1-24
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pubmed:abstractText |
To present clinical, genetic, biochemical, and molecular findings in a family with three sisters with complete androgen insensitivity syndrome (CAIS) and bilateral inguinal hernia.
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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 |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1556-5653
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
804.e19-21
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pubmed:meshHeading |
pubmed-meshheading:20888558-Adolescent,
pubmed-meshheading:20888558-Amino Acid Substitution,
pubmed-meshheading:20888558-Androgen-Insensitivity Syndrome,
pubmed-meshheading:20888558-Arginine,
pubmed-meshheading:20888558-Base Sequence,
pubmed-meshheading:20888558-Child,
pubmed-meshheading:20888558-DNA,
pubmed-meshheading:20888558-Female,
pubmed-meshheading:20888558-Gonadal Dysgenesis, 46,XY,
pubmed-meshheading:20888558-Hernia, Inguinal,
pubmed-meshheading:20888558-Humans,
pubmed-meshheading:20888558-Male,
pubmed-meshheading:20888558-Mutation, Missense,
pubmed-meshheading:20888558-Pedigree,
pubmed-meshheading:20888558-Protein Interaction Domains and Motifs,
pubmed-meshheading:20888558-Receptors, Androgen,
pubmed-meshheading:20888558-Serine,
pubmed-meshheading:20888558-Siblings
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pubmed:year |
2011
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pubmed:articleTitle |
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia.
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pubmed:affiliation |
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
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pubmed:publicationType |
Journal Article,
Case Reports
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