Article
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
Archives of Iranian medicine - 1 Nov 2015
Beheshtian Maryam, Saee Rad Samira, Babanejad Mojgan, Mohseni Marzieh, Hashemi Hassan, Eshghabadi Arash, Hajizadeh Fedra, Akbari Mohammad Reza, Kahrizi Kimia, Riazi Esfahani Mohammad, Najmabadi Hossein
Abstract excerpt
BACKGROUND: Non-syndromic autosomal recessive Retinitis Pigmentosa (arRP) is a highly heterogeneous genetic visual disorder with a large number of causative genes. We aimed to determine the power of Whole Exome Sequencing (WES) in the identification of the genes responsible for non-syndromic arRP among Iranian patients. METHODS: We used WES, followed by the Sanger sequencing to identify the underlying gene...
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