Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

Clinical Genetics

Volumn 79, Issue 6, 2011, Pages 582-587

  Flanagan, S E ^a   Kapoor, R R ^b,c   Banerjee, I ^d   Hall, C ^d   Smith, V V ^b,c   Hussain, K ^b,c   Ellard, S ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

ABCC8; Diazoxide; Hyperinsulinaemic hypoglycaemia; Pancreatectomy

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; DIAZOXIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; NUCLEOTIDE; SULFONYLUREA RECEPTOR 1;

ABCC8 GENE; ARTICLE; BINDING KINETICS; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERINSULINAEMIC HYPOGLYCAEMIA; HYPERINSULINEMIA; HYPOGLYCEMIA; INHERITANCE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PANCREAS RESECTION; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ATP-BINDING CASSETTE TRANSPORTERS; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FEMALE; GASTROINTESTINAL AGENTS; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; OCTREOTIDE; PANCREAS; PANCREATECTOMY; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 79955614474     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01476.x     Document Type: Article

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