首页> 美国卫生研究院文献>AACE Clinical Case Reports >A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA

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A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA

机译：一个无意义的Gata6突变解释了在30岁的非肥胖症患者中偶然发生的先天性心脏病的病史以及10年缺乏dka的糖尿病的控制性糖尿病。

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期刊名称 AACE Clinical Case Reports
作者
Michelle L. Miles; Natasha Cowan; Gavin Jackson;
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作者单位

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年(卷),期 2020(6),3
年度 2020
页码 -1
总页数 4
原文格式 PDF
正文语种
中图分类生理学;
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外文文献

1. A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay [J] . SuzukiS., NakaoA., SarhatA.R., American journal of medical genetics, Part A . 2014,第2期

机译：一例胰腺发育不全和先天性心脏病伴有新的GATA6无意义突变：无意义介导的mRNA衰变导致单倍体功能不足的证据
2. Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation [J] . Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, BMC Medical Genetics . 2020,第1期

机译：案例报告：成人患有部分胰腺发生的糖尿病，由于DE Novo GATA6突变引起的部分胰腺呕血和先天性心脏病
3. Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. [J] . Balasubramanian M, Shield JP, Acerini CL, American journal of medical genetics, Part A . 2010,第2期

机译：胰腺发育不全伴有新生儿糖尿病，伴有先天性心脏缺陷和发育迟缓。
4. Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation [O] . Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, 2020

机译：病例报告：由于新发GATA6突变而导致部分胰腺发育不全和先天性心脏病的成年糖尿病
5. GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes [O] . A. Bonnefond, O. Sand, B. Guerin, 2012

机译：GATA6灭活突变与心脏缺陷和不一致，与胰腺造成和糖尿病有关

A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA

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