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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2002-11-4
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pubmed:abstractText |
A 52-year-old woman with early-onset diabetes mellitus, severe diabetic retinopathy, and a family history of a dominant inheritance pattern was referred to our hospital. Direct sequencing revealed a novel mutation in the HNF-4alpha gene (R244Q). The position of the mutation in the amino-acid sequence of the gene is well conserved among species and transcriptional activity of the mutant gene was significantly reduced. Therefore, a diagnosis of maturity-onset diabetes of the young (MODY)-1 was made. Genetic testing enabled early diagnosis of diabetes in the patient's 20-year-old daughter, which we consider to be important for the prevention of diabetic complications.
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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 |
Oct
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pubmed:issn |
0918-2918
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pubmed:author |
pubmed-author:AkanumaYasuoY,
pubmed-author:HaraKazuoK,
pubmed-author:KadowakiHirokoH,
pubmed-author:KadowakiTakashiT,
pubmed-author:KimuraSatoshiS,
pubmed-author:MatsuzawaYujiY,
pubmed-author:NagamatsuShinyaS,
pubmed-author:NodaMitsuhikoM,
pubmed-author:SatouHiroakiH,
pubmed-author:TobeKazuyukiK,
pubmed-author:TsukamotoKazuhisaK,
pubmed-author:WakiHironoriH,
pubmed-author:YamagataKazuhiroK,
pubmed-author:YamauchiToshimasaT
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pubmed:issnType |
Print
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
848-52
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:12413008-Adult,
pubmed-meshheading:12413008-Age of Onset,
pubmed-meshheading:12413008-Basic Helix-Loop-Helix Leucine Zipper Transcription Factors,
pubmed-meshheading:12413008-Blood Glucose,
pubmed-meshheading:12413008-DNA-Binding Proteins,
pubmed-meshheading:12413008-Diabetes Mellitus, Type 2,
pubmed-meshheading:12413008-Female,
pubmed-meshheading:12413008-Genes, Dominant,
pubmed-meshheading:12413008-Glucose Tolerance Test,
pubmed-meshheading:12413008-Hepatocyte Nuclear Factor 4,
pubmed-meshheading:12413008-Humans,
pubmed-meshheading:12413008-Middle Aged,
pubmed-meshheading:12413008-Mutation,
pubmed-meshheading:12413008-Pedigree,
pubmed-meshheading:12413008-Phosphoproteins,
pubmed-meshheading:12413008-Transcription, Genetic,
pubmed-meshheading:12413008-Transcription Factors
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pubmed:year |
2002
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pubmed:articleTitle |
Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene.
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pubmed:affiliation |
Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo.
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pubmed:publicationType |
Journal Article,
Case Reports
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