1992年12月
STRUCTURE OF THE HUMAN GLUCOKINASE GENE AND IDENTIFICATION OF A MISSENSE MUTATION IN A JAPANESE PATIENT WITH EARLY-ONSET NON-INSULIN-DEPENDENT DIABETES-MELLITUS
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
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- 巻
- 75
- 号
- 6
- 開始ページ
- 1571
- 終了ページ
- 1573
- 記述言語
- 英語
- 掲載種別
- 記事・総説・解説・論説等(学術雑誌)
- 出版者・発行元
- ENDOCRINE SOC
Glucokinase is thought to play a glucose-sensor role in the pancreas, and abnormalities in its structure, function, and regulation can induce diabetes. We isolated the human glucokinase gene and determined its genomic structure including exon-intron boundaries. Structure of the glucokinase gene in human was very similar to that in at Then, by screening Japanese diabetic patients using polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP) and direct-sequencing strategies, we identified a missense mutation substituting arginine (AGG) for glycine (GGG) at position 261 in exon 7 of the glucokinase gene in a patient with early-onset non-insulin-dependent diabetes (NIDDM).
- リンク情報
- ID情報
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- ISSN : 0021-972X
- Web of Science ID : WOS:A1992KD20100036