Exome sequencing and genetic testing for MODY

PLoS ONE

Volumn 7, Issue 5, 2012, Pages

  Johansson, Stefan ^a,b   Irgens, Henrik ^a,b   Chudasama, Kishan K ^a,b   Molnes, Janne ^a   Aerts, Jan ^c,d   Roque, Francisco S ^e   Jonassen, Inge ^a,e   Levy, Shawn ^f   Lima, Kari ^g   Knappskog, Per M ^a,b   Bell, Graeme I ^h   Molven, Anders ^a,b   Njølstad, Pål R ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e Uni Research   (Norway)

^f HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^g AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^h UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; METFORMIN; NOTCH2 RECEPTOR; ORAL ANTIDIABETIC AGENT; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; SULFONYLUREA;

ABCC8 GENE; ADOLESCENT; ADULT; AGED; ARAP1 GENE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GCK GENE; GENE; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; GLIS3 GENE; GLUCOSE METABOLISM; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HNF1A GENE; HNF1B GENE; HNF4A GENE; HUMAN; INS GENE; MADD GENE; MALE; MATURITY ONSET DIABETES MELLITUS; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NOTCH2 GENE; PPARG GENE; SINGLE NUCLEOTIDE POLYMORPHISM; WFS1 GENE;

ADOLESCENT; ADULT; CHILD; DIABETES MELLITUS, TYPE 2; EXOME; FEMALE; GENES, DOMINANT; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84861476229     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0038050     Document Type: Article

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