Open AccessIn silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype
Author(s) -
Shamim Saleha,
Muhammad Ajmal,
Muhammad Jamil,
Muhammad Nasir,
Abdul Hameed
Publication year - 2016
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2016.05.04
Subject(s) - genetics , usher syndrome , biology , locus (genetics) , candidate gene , missense mutation , genetic linkage , phenotype , consanguinity , disease gene identification , gene , exome sequencing , retinitis pigmentosa
To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation.
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