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Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation.

作者信息

Delvecchio Maurizio, Di Paola Rosa, Mangiacotti Davide, Sacco Michele, Menzaghi Claudia, Trischitta Vincenzo

机构信息

Dipartimento di Scienze e Chirurgia Pediatriche, U,O, "B Trambusti", A,O,U, Consorziale Policlinico Giovanni XXIII, Bari 70100, Italy.

出版信息

Ital J Pediatr. 2014 Jun 19;40:58. doi: 10.1186/1824-7288-40-58.

DOI:10.1186/1824-7288-40-58
PMID:24947580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4100025/
Abstract
摘要

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Oncotarget. 2018 May 25;9(40):26144-26156. doi: 10.18632/oncotarget.25456.

本文引用的文献

1
Multidomain integration in the structure of the HNF-4α nuclear receptor complex.多结构域在 HNF-4α 核受体复合物结构中的整合。
Nature. 2013 Mar 21;495(7441):394-8. doi: 10.1038/nature11966. Epub 2013 Mar 13.
2
MODY type 2 P59S GCK mutant: founder effect in South of Italy.MODY 2 型 P59S GCK 突变:意大利南部的创始效应。
Clin Genet. 2013 Jan;83(1):83-7. doi: 10.1111/j.1399-0004.2012.01856.x. Epub 2012 Mar 26.
3
Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.对日本儿科起病的 MODY 型糖尿病患者进行全面的分子分析。
Pediatr Diabetes. 2012 Feb;13(1):26-32. doi: 10.1111/j.1399-5448.2011.00827.x. Epub 2011 Nov 8.
4
Maturity-onset diabetes of the young (MODY): how many cases are we missing?青少年起病的成年型糖尿病(MODY):我们遗漏了多少病例?
Diabetologia. 2010 Dec;53(12):2504-8. doi: 10.1007/s00125-010-1799-4. Epub 2010 May 25.
5
A method and server for predicting damaging missense mutations.一种预测有害错义突变的方法及服务器。
Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248.
6
Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with Type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database.与儿童和青少年 2 型糖尿病(T2DM)相比,年轻起病的成年型糖尿病(MODY 糖尿病)的表型特征:来自大型多中心数据库的经验。
Diabet Med. 2009 May;26(5):466-73. doi: 10.1111/j.1464-5491.2009.02720.x.
7
The Human Gene Mutation Database: 2008 update.人类基因突变数据库:2008 年更新。
Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13.
8
Genetics of gestational diabetes mellitus and type 2 diabetes.妊娠期糖尿病和2型糖尿病的遗传学
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10
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