De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

Diabetologia

Volumn 57, Issue 3, 2014, Pages 480-484

  Stanik, Juraj ^a,b   Dusatkova, Petra ^c   Cinek, Ondrej ^c   Valentinova, Lucia ^a   Huckova, Miroslava ^a   Skopkova, Martina ^a   Dusatkova, Lenka ^c   Stanikova, Daniela ^a,b   Pura, Mikulas ^d   Klimes, Iwar ^a,e   Lebl, Jan ^c   Gasperikova, Daniela ^a,e   Pruhova, Stepanka ^c  

^a INSTITUTE OF EXPERIMENTAL ENDOCRINOLOGY   (Slovakia)

^b Faculty of Natural Sciences   (Slovakia)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d National Institute of Endocrinology and Diabetology   (Slovakia)

^e INSTITUTE OF CHEMISTRY   (Slovakia)

Author keywords

De novo mutations; Diabetes; GCK; HNF1A; HNF4A; MODY

Indexed keywords

GERMINAL CENTER KINASES; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HNF1A PROTEIN, HUMAN; HNF4A PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

CLINICAL TRIAL; CZECH REPUBLIC; DIABETES MELLITUS, TYPE 2; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; MULTICENTER STUDY; MUTATION; PEDIGREE; PREVALENCE; SLOVAKIA;

CZECH REPUBLIC; DIABETES MELLITUS, TYPE 2; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MUTATION; PEDIGREE; PREVALENCE; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE ANALYSIS, DNA; SLOVAKIA;

EID: 84894515689     PISSN: 0012186X     EISSN: 14320428     Source Type: Journal    
DOI: 10.1007/s00125-013-3119-2     Document Type: Article

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