Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia

Pediatric Diabetes

Volumn 13, Issue 3, 2012, Pages 285-289

  Flanagan, S E ^a   Damhuis, A ^b   Banerjee, I ^c   Rokicki, D ^d   Jefferies, C ^e   Kapoor, R R ^f   Hussain, K ^f   Ellard, S ^a,b  

^a UNIVERSITY OF EXETER   (United Kingdom)

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

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

ABCC8; Dosage, gene deletions; Hyperinsulinaemic hypoglycaemia; MLPA

Indexed keywords

DIAZOXIDE;

ABCC8 GENE; ARTICLE; CONTROLLED STUDY; GENE; GENE DELETION; GENE DOSAGE; HETEROZYGOSITY; HUMAN; HYPERINSULINEMIA; HYPOGLYCEMIA; KCNJ11 GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PANCREAS DISEASE; PRIORITY JOURNAL;

ATP-BINDING CASSETTE TRANSPORTERS; DIAZOXIDE; GENE DELETION; GENE DOSAGE; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 84860348827     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2011.00821.x     Document Type: Article

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