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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2019
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| Materias: | |
| 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 |