Two novel PRPF31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa

OBJECTIVE: To identify the causative mutations in two Chinese families with retinitis pigmentosa (RP), and to describe the associated phenotype. METHODS: Individuals from two unrelated families underwent full ophthalmic examinations. After informed consent was obtained, genomic DNA was extracted fro...

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Detalles Bibliográficos
Autores principales: Dong, Bing, Chen, Jieqiong, Zhang, Xiaohui, Pan, Zhe, Bai, Fengge, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850970/
https://www.ncbi.nlm.nih.gov/pubmed/24319336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850970/
https://www.ncbi.nlm.nih.gov/pubmed/24319336

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