Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

about

Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.

P2860

Q47445785-54E11B19-448F-4CC4-BA9C-5AF0C2A6A41B

P2860

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

Item

http://www.wikidata.org/entity/Q51313214

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年学术文章

@wuu

2014年学术文章

@zh

2014年学术文章

@zh-cn

2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

@yue

2014年學術文章

@zh-hant

name

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

@en

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

@nl

type

Item

label

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

@en

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

@nl

prefLabel

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

@en

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

@nl

P1476

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

@en

P2093

Alexandre Carvalho

http://www.w3.org/2001/XMLSchema#string

Nélia Ferraria

http://www.w3.org/2001/XMLSchema#string

Paula Afonso

http://www.w3.org/2001/XMLSchema#string

Sofia Vidal Castro

http://www.w3.org/2001/XMLSchema#string

P2860

Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

New HNF-1α nonsense mutation causes maturity-onset diabetes of the young type 3.

Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes.

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.

Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).

The diagnosis and management of monogenic diabetes in children and adolescents.

P304

772-775

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1590/0004-2730000003147

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2014-10-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

25372588

http://www.w3.org/2001/XMLSchema#string

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

about

P2860

P2860

Maturity onset diabetes of young type 2 due to a novel de novo GKC mutation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698