Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in Cis

Diabetes Care

Volumn 35, Issue 7, 2012, Pages 1482-1484

  Beer, Nicola L ^a,b   Osbak, Kara K ^a   Van De Bunt, Martijn ^a   Tribble, Nicholas D ^a   Steele, Anna M ^c   Wensley, Kirsty J ^c   Edghill, Emma L ^c   Colcough, Kevin ^d   Barrett, Amy ^a   Valentínová, Lucia ^a,e   Rundle, Jana K ^a   Raimondo, Anne ^a   Grimsby, Joseph ^f   Ellard, Sian ^c,d   Gloyn, Anna L ^a,g  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c UNIVERSITY OF EXETER   (United Kingdom)

^d ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^e INSTITUTE OF EXPERIMENTAL ENDOCRINOLOGY   (Slovakia)

^f Hoffman La Roche Department of Metabolic Diseases   (United States)

^g CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE;

ARTICLE; CONTROLLED STUDY; GCK GENE; GENE; GENE FUNCTION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MATURITY ONSET DIABETES MELLITUS; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHENOTYPE; POLYMERASE CHAIN REACTION;

DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC TESTING; GLUCOKINASE; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 84862899735     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc11-2420     Document Type: Article

References (13)

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