Source:http://linkedlifedata.com/resource/pubmed/id/15589122
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2004-12-13
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pubmed:abstractText |
We investigated if eight SRY-negative 46,XX true hermaphrodites presented mutations in WNT-4, in blood leukocytes and/or gonadal tissue, as the cause of their disorder. We designed the sequences of the reverse primer of exon 1 and the primers of exons 2-5. Direct sequencing of all five exons demonstrated no mutant alleles in any of the patients. The possibility of the existence of causative mutations in the untranslated regions of WNT-4, or within introns cannot be ruled out.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1096-7192
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
83
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
341-3
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:15589122-Child, Preschool,
pubmed-meshheading:15589122-Disorders of Sex Development,
pubmed-meshheading:15589122-Female,
pubmed-meshheading:15589122-Genetic Testing,
pubmed-meshheading:15589122-Humans,
pubmed-meshheading:15589122-Infant,
pubmed-meshheading:15589122-Infant, Newborn,
pubmed-meshheading:15589122-Leukocytes,
pubmed-meshheading:15589122-Mutation,
pubmed-meshheading:15589122-Proto-Oncogene Proteins,
pubmed-meshheading:15589122-Wnt Proteins,
pubmed-meshheading:15589122-Wnt4 Protein
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pubmed:year |
2004
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pubmed:articleTitle |
Screening for mutations in the WNT-4 gene in patients with 46,XX true hermaphroditism.
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pubmed:affiliation |
Research Unit in Developmental Biology, Hospital de Pediatría, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico, DF, Mexico.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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