|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0017337,
umls-concept:C0023884,
umls-concept:C0026882,
umls-concept:C0069116,
umls-concept:C0208973,
umls-concept:C0227525,
umls-concept:C0330390,
umls-concept:C0332281,
umls-concept:C0431693,
umls-concept:C0678257,
umls-concept:C1314939,
umls-concept:C1517892,
umls-concept:C1704666
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2002-7-30
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|
pubmed:abstractText |
Mutations in the hepatocyte nuclear factor (HNF)-1beta gene (TCF2) are responsible for a syndrome characterized by maturity-onset diabetes of the young, a nondiabetic renal disease, genital malformations, and liver dysfunction.
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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
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
1523-6838
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|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
40
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
397-402
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pubmed:dateRevised |
2008-9-11
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pubmed:meshHeading |
pubmed-meshheading:12148114-Adult,
pubmed-meshheading:12148114-Codon,
pubmed-meshheading:12148114-DNA-Binding Proteins,
pubmed-meshheading:12148114-Diabetes Mellitus, Type 2,
pubmed-meshheading:12148114-Female,
pubmed-meshheading:12148114-Genitalia,
pubmed-meshheading:12148114-Hepatocyte Nuclear Factor 1-beta,
pubmed-meshheading:12148114-Humans,
pubmed-meshheading:12148114-Kidney Diseases, Cystic,
pubmed-meshheading:12148114-Liver Diseases,
pubmed-meshheading:12148114-Male,
pubmed-meshheading:12148114-Middle Aged,
pubmed-meshheading:12148114-Mutation, Missense,
pubmed-meshheading:12148114-Pedigree,
pubmed-meshheading:12148114-Syndrome,
pubmed-meshheading:12148114-Transcription Factors
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|
pubmed:year |
2002
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|
pubmed:articleTitle |
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.
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|
pubmed:affiliation |
Renal Unit, Niguarda-Ca' Granda Hospital, Milan, Italy.
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pubmed:publicationType |
Journal Article,
Review,
Case Reports,
Research Support, Non-U.S. Gov't
|
