Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

American Journal of Human Genetics

Volumn 92, Issue 1, 2013, Pages 131-136

  Flanagan, Sarah E ^a   Xie, Weijia ^a   Caswell, Richard ^a   Damhuis, Annet ^b   Vianey Saban, Christine ^c   Akcay, Teoman ^d   Darendeliler, Feyza ^e   Bas, Firdevs ^e   Guven, Ayla ^f   Siklar, Zeynep ^g   Ocal, Gonul ^g   Berberoglu, Merih ^g   Murphy, Nuala ^h   O'Sullivan, Maureen ^i,j   Green, Andrew ^i,k   Clayton, Peter E ^l   Banerjee, Indraneel ^l,m   Clayton, Peter T ⁿ   Hussain, Khalid ^n,o   Weedon, Michael N ^a   Ellard, Sian ^a,b   more..

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

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

^c HOSPICES CIVILS DE LYON   (France)

^d SISLI ETFAL TRAINING AND RESEARCH HOSPITAL   (Turkey)

^e ISTANBUL UNIVERSITY   (Turkey)

^f Göztepe Educational and Research Hospital ^*  (Turkey)

^g ANKARA UNIVERSITY   (Turkey)

^h CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

ⁱ OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^j TRINITY COLLEGE DUBLIN   (Ireland)

^k UNIVERSITY COLLEGE DUBLIN   (Ireland)

^l UNIVERSITY OF MANCHESTER   (United Kingdom)

^m ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^o GREAT ORMOND STREET HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

ABCC8 GENE; AMPLICON; ARTICLE; BIOCHEMISTRY; CODON; COHORT ANALYSIS; CONTROLLED STUDY; DEEP INTRONIC MUTATION; DNA SEQUENCE; EXON; FIBROBLAST; GENE; GENE ACTIVATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; HADH GENE; HUMAN; HUMAN CELL; HYPERINSULINISM; INSULIN HYPOGLYCEMIA; INTRON; IRELAND; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SEQUENCE; RNA SPLICING; RNA TRANSCRIPTION; SEQUENCE ANALYSIS; TURKEY (REPUBLIC);

3-HYDROXYACYL COA DEHYDROGENASES; ATP-BINDING CASSETTE TRANSPORTERS; CELL LINE; EXONS; HUMANS; HYPERINSULINISM; INTRONS; MALE; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

EID: 84872296411     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.11.017     Document Type: Article

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