An augmented abca4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian stargardt patients

Human Mutation

Volumn 36, Issue 1, 2015, Pages 39-42

  Bauwens, Miriam ^a   De Zaeytijd, Julie ^a   Weisschuh, Nicole ^b   Kohl, Susanne ^b   Meire, Françoise ^c   Dahan, Karin ^d   Depasse, Fanny ^c   De Jaegere, Sarah ^a   De Ravel, Thomy ^e   De Rademaeker, Marjan ^f   Loeys, Bart ^g   Coppieters, Frauke ^a   Leroy, Bart P ^a,h   De Baere, Elfride ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^d INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f FREE UNIVERSITY OF BRUSSELS   (Belgium)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

ABCA4; Deep intronic mutation; Founder; Genotype phenotype correlations; Stargardt; STGD1

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN;

BELGIUM; FOUNDER EFFECT; GENETIC ASSOCIATION; GENETICS; HAPLOTYPE; HUMAN; INTRON; MACULAR DEGENERATION; MUTATION;

ATP-BINDING CASSETTE TRANSPORTERS; BELGIUM; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; HAPLOTYPES; HUMANS; INTRONS; MACULAR DEGENERATION; MUTATION;

EID: 84920070035     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22716     Document Type: Article

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