Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report

BACKGROUND: Variants in PRPF31, which encodes pre-mRNA processing factor 31 homolog, are known to cause autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance. However, the majority of mutations cause null alleles, with only two proven pathogenic missense mutations. We identified...

Descripción completa

Detalles Bibliográficos
Autores principales: Bryant, Laura, Lozynska, Olga, Marsh, Anson, Papp, Tyler E, van Gorder, Lucas, Serrano, Leona W, Gai, Xiaowu, Maguire, Albert M, Aleman, Tomas S, Bennett, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582727/
https://www.ncbi.nlm.nih.gov/pubmed/30030392
http://dx.doi.org/10.1136/bjophthalmol-2017-311405

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582727/
https://www.ncbi.nlm.nih.gov/pubmed/30030392
http://dx.doi.org/10.1136/bjophthalmol-2017-311405

Ejemplares similares