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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...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | 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 |
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