A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

PURPOSE: Autosomal recessive bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans. The aim was to determine whether a synonymous BEST1 variant, c.102C>T, identif...

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Detalles Bibliográficos
Autores principales: Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013070/
https://www.ncbi.nlm.nih.gov/pubmed/21203346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013070/
https://www.ncbi.nlm.nih.gov/pubmed/21203346

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