Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes

Clinical Genetics

Volumn 90, Issue 6, 2016, Pages 486-495

  Balamurugan, K ^a   Bjorkhaug L ^b   Mahajan, S ^c   Kanthimathi, S ^a   Njolstad P R ^b,d   Srinivasan, N ^c   Mohan, V ^a   Radha, V ^a  

^a MADRAS DIABETES RESEARCH FOUNDATION   (India)

^b UNIVERSITY OF BERGEN   (Norway)

^c INDIAN INSTITUTE OF SCIENCE   (India)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

functional characterization; HNF1A gene mutations; MODY; South India

Indexed keywords

CHOLESTEROL; HEMOGLOBIN A1C; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; TRIACYLGLYCEROL; HNF1A PROTEIN, HUMAN;

ARTICLE; CELLULAR DISTRIBUTION; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; DNA BINDING; EXOME; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HELA CELL LINE; HUMAN; HUMAN CELL; IN VITRO STUDY; INDIAN; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MONOGENIC DISORDER; NON INSULIN DEPENDENT DIABETES MELLITUS; PATIENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSACTIVATION; ADOLESCENT; ADULT; CHEMISTRY; GENETICS; INDIA; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; STRUCTURE ACTIVITY RELATION;

ADOLESCENT; ADULT; DIABETES MELLITUS, TYPE 2; FEMALE; HELA CELLS; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HUMANS; INDIA; MALE; MUTATION; PEDIGREE; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84959452231     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12757     Document Type: Article

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