Novel mutation in the hepatocyte nuclear factor 1B/maturity – onset diabetes of the young type 5 gene – unreported Vietnamese case
نویسندگان
چکیده
منابع مشابه
Novel mutation in the hepatocyte nuclear factor 1B/maturity – onset diabetes of the young type 5 gene – unreported Vietnamese case
Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly inherited diabetes mellitus and nephropathy, has been associated with mutations of the hepatocyte nuclear factor-1 (HNF-1b) gene, mostly generating truncated protein. Various phenotypes are related to HNF-1b mutations. Our aim to describe clinical and genetic findings in the unreported Vietnamese case identified with HNF-...
متن کاملA Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)
Maturity-onset diabetes of the young (MODY) is both a genetically and clinically heterozygous type of diabetes mellitus characterized by early onset (often before 25 yr of age) and absence of pancreatic β-cell autoimmunity markers (1). To date, mutations in several distinct genes have been implicated in MODY (1, 2). Among the different types of MODY, MODY5 is caused by mutations in the gene enc...
متن کاملReduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young.
CONTEXT There are interplays between the endocrine and exocrine pancreas. We recently reported an increased frequency of exocrine dysfunction in HNF1A-maturity-onset diabetes of the young (MODY3) patients, compared with controls. Reduced pancreatic volume is seen in HNF1B-MODY (MODY5) and diabetes types 1 and 2. OBJECTIVE The aim of this study was to investigate whether HNF1A mutation carrier...
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abstract هنجارهای بومی سازی در ترجمه متون چندوجهی فارسی:مورد دموهای بازیهای کامپیوتری چکیده اهداف عمده مطالعه حاضر به سه دسته تقسیم میشوند: 1) بررسی مشکلات احتمالی ترجمه دموهای (فیلمهای) بازیهای کامپیوتری،2) تعیین هنجارهای بومی سازی در ترجمه دموهای (فیلمهای) بازیهای کامپیوتری و 3) تعیین ایدئولوژیهایی که این هنجارها در جامعه نشان میدهند. به این منظور، ابتدا، مجموعه ای ازدموهای (فیلمهای) ب...
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ژورنال
عنوان ژورنال: International Journal of Pediatric Endocrinology
سال: 2015
ISSN: 1687-9856
DOI: 10.1186/1687-9856-2015-s1-p25