Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

Item
http://www.wikidata.org/entity/Q57916588
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.Hyperinsulinism and diabetes: genetic dissection of beta cell metabolism-excitation coupling in miceGenetic and clinical characteristics of maturity-onset diabetes of the young.Molecular Analysis of a Genetic Variants Panel Related to Nutrients and Metabolism: Association with Susceptibility to Gestational Diabetes and Cardiometabolic Risk in Affected WomenPattern of sequence variation across 213 environmental response genes.A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.Glucokinase mutation-a rare cause of recurrent hypoglycemia in adults: a case report and literature review.Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.MODY type 2 P59S GCK mutant: founder effect in South of Italy
P2860

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

Item
http://www.wikidata.org/entity/Q57916588
description
im November 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 November 2003
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2003
@uk
name
Identification of 21 novel glu ...... t diabetes of the young (MODY)
@en
Identification of 21 novel glucokinase
@nl
type
label
Identification of 21 novel glu ...... t diabetes of the young (MODY)
@en
Identification of 21 novel glucokinase
@nl
prefLabel
Identification of 21 novel glu ...... t diabetes of the young (MODY)
@en
Identification of 21 novel glucokinase
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Identification of 21 novel glu ...... t diabetes of the young (MODY)
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698