Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

BACKGROUND: Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for <1% in Stargardt disease. The consequences of these delins variants on splicing cannot be predicted with certainty without supporting in vitro...

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Detalles Bibliográficos
Autores principales: Huang, Di, Thompson, Jennifer A., Charng, Jason, Chelva, Enid, McLenachan, Samuel, Chen, Shang‐Chih, Zhang, Dan, McLaren, Terri L., Lamey, Tina M., Constable, Ian J., De Roach, John N., Aung‐Htut, May Thandar, Adams, Abbie, Fletcher, Sue, Wilton, Steve D., Chen, Fred K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336727/
https://www.ncbi.nlm.nih.gov/pubmed/32627976
http://dx.doi.org/10.1002/mgg3.1259

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