In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

Article, Other literature type English OPEN
Saleha, Shamim ; Ajmal, Muhammad ; Jamil, Muhammad ; Nasir, Muhammad ; Hameed, Abdul (2016)
  • Publisher: International Journal of Ophthalmology Press
  • Journal: International Journal of Ophthalmology (issn: 2222-3959, eissn: 2227-4898)
  • Related identifiers: doi: 10.18240/ijo.2016.05.04, pmc: PMC4886895
  • Subject: 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... View more
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