Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

We investigated the prevalence of reported deep-intronic variants in a French cohort of 70 patients with Stargardt disease harboring a monoallelic pathogenic variant on the exonic regions of ABCA4. Direct Sanger sequencing of selected intronic regions of ABCA4 was conducted. Complete phenotypic anal...

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Detalles Bibliográficos
Autores principales: Nassisi, Marco, Mohand-Saïd, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Méjécase, Cécile, Varin, Juliette, Wohlschlegel, Juliette, Dhaenens, Claire-Marie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829239/
https://www.ncbi.nlm.nih.gov/pubmed/31614660
http://dx.doi.org/10.3390/ijms20205053

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829239/
https://www.ncbi.nlm.nih.gov/pubmed/31614660
http://dx.doi.org/10.3390/ijms20205053

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