Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

PURPOSE: We determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene. METHODS: A total of 62 individuals (19 families) harboring the PRPH2 c.828+3A>T mutat...

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Detalles Bibliográficos
Autores principales: Shankar, Suma P., Hughbanks-Wheaton, Dianna K., Birch, David G., Sullivan, Lori S., Conneely, Karen N., Bowne, Sara J., Stone, Edwin M., Daiger, Stephen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2016
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736744/
https://www.ncbi.nlm.nih.gov/pubmed/26842753
http://dx.doi.org/10.1167/iovs.15-16965

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