Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

Human Mutation

Volumn 30, Issue 2, 2009, Pages 170-180

  Flanagan, Sarah E ^a   Clauin, Séverine ^b   Bellanné Chantelot, Christine ^b   De Lonlay, Pascale ^c   Harries, Lorna W ^a   Gloyn, Anna L ^d   Ellard, Sian ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b AP HP Pitié Salpétrière ^*  (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

ABCC8; Hyperinsulinemia of infancy; Inwardly rectifying; KCNJ11; Kir6.2; Permanent neonatal diabetes; Potassium channel; Sulfonylurea receptor; SUR1; Transient neonatal diabetes

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA RECEPTOR 1;

DIABETES MELLITUS; DNA POLYMORPHISM; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HYPERGLYCEMIA; HYPERINSULINISM; HYPOGLYCEMIA; INSULIN RELEASE; NEWBORN DIABETES MELLITUS; NONHUMAN; NUCLEOTIDE SEQUENCE; PANCREAS ISLET BETA CELL; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRIORITY JOURNAL; REVIEW;

ATP-BINDING CASSETTE TRANSPORTERS; DIABETES MELLITUS; HUMANS; HYPERINSULINISM; INSULIN-SECRETING CELLS; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN SUBUNITS; RECEPTORS, DRUG;

EID: 59749094454     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20838     Document Type: Review

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