Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant

Human Mutation

Volumn 36, Issue 1, 2015, Pages 43-47

  Bax, Nathalie M ^a   Sangermano, Riccardo ^a,b   Roosing, Susanne ^a,b   Thiadens, Alberta A H J ^c   Hoefsloot, Lies H ^a   van den Born, L Ingeborgh ^d   Phan, Milan ^a   Klevering, B Jeroen ^a   Westeneng van Haaften, Carla ^a   Braun, Terry A ^e   Zonneveld Vrieling, Marijke N ^a   de Wijs, Ilse ^a   Mutlu, Merve ^a   Stone, Edwin M ^e,f   den Hollander, Anneke I ^a,b   Klaver, Caroline C W ^c   Hoyng, Carel B ^a   Cremers, Frans P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

^e UNIVERSITY OF IOWA   (United States)

^f UNIVERSITY OF IOWA   (United States)

Author keywords

ABCA4; Deep intronic variants; Mutation; Retinal dystrophies; Splicing; Stargardt; STGD1

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN;

DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; INTRON; MACULAR DEGENERATION; MALE; PEDIGREE; PROCEDURES; RETINITIS PIGMENTOSA;

ATP-BINDING CASSETTE TRANSPORTERS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MACULAR DEGENERATION; MALE; PEDIGREE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84920085997     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22717     Document Type: Article

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