Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Pathogenic variants in the ATP‐binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease. Noncanonical splice site (NCSS) and deep‐intronic variants constitute a large fraction of disease‐causing alleles, defining the functional consequ...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mutat
Prif Awduron: Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S., Ayuso, Carmen, Cremers, Frans P. M., Roosing, Susanne, The ABCA4 study group
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Research Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6899986/
https://ncbi.nlm.nih.gov/pubmed/31397521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23890
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg