In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype
Article, Other literature type
- Publisher: International Journal of Ophthalmology Press
International Journal of Ophthalmology
(issn: 2222-3959, eissn: 2227-4898)
Pakistani family | RE1-994 | deafness and blindness | causative gene | Ophthalmology | Basic Research | missense mutation | Usher syndrome
mesheuropmc: eye diseases | otorhinolaryngologic diseases
AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation.
METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autoso...