Article
Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.
Molecular vision - 1 Jan 2013
Dong Bing, Chen Jieqiong, Zhang Xiaohui, Pan Zhe, Bai Fengge, Li Yang
Abstract excerpt
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 from the venous blood of all participants. Linkage analysis was performed on the known genetic loci for autosomal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.