Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1α mutations -: Evidence for parent-of-origin effect
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1α mutations -: Evidence for parent-of-origin effect
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DOI：
10.2337/diacare.25.12.2292
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发表时间：
2002-12-01
期刊：
影响因子：
16.2
通讯作者：
Krolewski, AS
中科院分区：
文献类型：
--
作者：
Klupa, T;Warram, JH;Krolewski, AS
确定糖尿病发病年龄的分布研究设计和方法--招募了104个显性遗传的2型糖尿病扩展家族（n=104），并筛选了HNF-1 α中引起糖尿病的突变。1 α突变与糖尿病共分离，仅在13个家庭中，所有家庭的平均发病年龄
Objective-To determine the distribution of the age at onset of diabetes (maturity-onset diabetes of the young-3 [MODY3]) and to identify determinants of the onset of diabetes in carriers of HNF-1alpha mutations.Research Design and Methods-Extended families (n=104) with type 2 diabetes inherited in a dominant pattern were recruited and screened for diabetes-causing mutations in HNF-1alpha.Results-HNF-1alpha mutations cosegregated with diabetes in only 13 families, all with a mean age at onset