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Titolo:
MUTATION OF THE GLUCAGON RECEPTOR GENE AND DIABETES-MELLITUS IN THE UK - ASSOCIATION OR FOUNDER EFFECT
Autore:
GOUGH SCL; SAKER PJ; PRITCHARD LE; MERRIMAN TR; MERRIMAN ME; ROWE BR; KUMAR S; AITMAN T; BARNETT AH; TURNER RC; BAIN SC; TODD JA;
Indirizzi:
WELCOME TRUST CTR HUMAN GENET,NUFFIELD DEPT SURG,WINDMILL RD OXFORD OX3 7BN ENGLAND WELCOME TRUST CTR HUMAN GENET,NUFFIELD DEPT SURG OXFORD OX3 7BN ENGLAND RADCLIFFE INFIRM,DIABET RES LABS OXFORD OX2 6HE ENGLAND UNIV BIRMINGHAM,BIRMINGHAM HEARTLANDS HOSP,DEPT MED DIABET ENDOCRINOLBIRMINGHAM B9 5SS W MIDLANDS ENGLAND MANCHESTER ROYAL INFIRM,DEPT MED MANCHESTER M13 9WL LANCS ENGLAND HAMMERSMITH HOSP,MRC,CTR CLIN SCI LONDON W12 0NN ENGLAND
Titolo Testata:
Human molecular genetics
fascicolo: 9, volume: 4, anno: 1995,
pagine: 1609 - 1612
SICI:
0964-6906(1995)4:9<1609:MOTGRG>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN INSULIN GENE; GLUCOSE-TRANSPORTER; POLYMORPHISMS; GLUCOKINASE; LOCUS; NIDDM; MECHANISMS; RESISTANCE; DEFINITION; LINKAGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
S.C.L. Gough et al., "MUTATION OF THE GLUCAGON RECEPTOR GENE AND DIABETES-MELLITUS IN THE UK - ASSOCIATION OR FOUNDER EFFECT", Human molecular genetics, 4(9), 1995, pp. 1609-1612

Abstract

Recent evidence suggests that a mutation of the glucagon receptor (GCG-R) gene is involved in the development of type 2 diabetes in French patients, We have examined patients from three geographically distinctregions in the UK and found the GGT(40) (Gly) to AGT(40) (Ser) mutation to be present in 15/691 (2.2%) of patients with type 2 (non-insulindependent) diabetes and 1/425 (0.2%) of geographically matched controls and have therefore replicated association of the GCG-R mutation with classical type 2 diabetes (Fisher's exact test p = 0.008). An increased frequency of the mutation of the GCG-R gene was also found in probands of type 1 (insulin dependent) diabetic multiplex (affected sib pair) families, (10/404, 2.5%), However, a lack of preferential transmission from parents heterozygous for the mutation, to affected type 1 diabetic sibs may suggest population stratification. This in turn cannotbe excluded as an alternative explanation for the difference in frequency of the GCG-R gene mutation between subjects with type 2 diabetes and normal controls.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 06:56:48