Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy

Diabetes

Volumn 57, Issue 1, 2008, Pages 255-258

  Shield, Julian P H ^a   Flanagan, Sarah E ^b   Mackay, Deborah J ^c,d   Harries, Lorna W ^b   Proks, Peter ^e   Girard, Christophe ^e   Ashcroft, Frances M ^e   Temple, I Karen ^c,d   Ellard, Sian ^b  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; ABC TRANSPORTER; DRUG RECEPTOR; INWARDLY RECTIFYING POTASSIUM CHANNEL; MICROSATELLITE DNA; POTASSIUM CHANNEL; SULFONYLUREA RECEPTOR;

ARTICLE; CENTROMERE; CONTROLLED STUDY; DIABETES MELLITUS; GENE MUTATION; GENETIC CODE; HEMIHYPERTROPHY; HUMAN; HYPERINSULINEMIA; HYPOGLYCEMIA; NEWBORN DISEASE; PRIORITY JOURNAL; CASE REPORT; CHROMOSOME 11; GENETICS; HEMISPHERIC DOMINANCE; INSULIN DEPENDENT DIABETES MELLITUS; KIDNEY; MALE; MOSAICISM; MUTATION; NEWBORN; PATHOLOGY; UNIPARENTAL DISOMY;

ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOMES, HUMAN, PAIR 11; DIABETES MELLITUS, TYPE 1; FUNCTIONAL LATERALITY; HUMANS; INFANT, NEWBORN; KIDNEY; MALE; MICROSATELLITE REPEATS; MOSAICISM; MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; UNIPARENTAL DISOMY;

EID: 38449116357     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db07-0999     Document Type: Article

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