Article
Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India.
Molecular vision - 4 Feb 2005
Chakrabarti Subhabrata, Kaur Kiranpreet, Komatireddy Sreelatha, Acharya Moulinath, Devi Koilkonda R, Mukhopadhyay Arijit, Mandal Anil K, Hasnain Seyed E, Chandrasekhar Garudadri, Thomas Ravi, Ray Kunal
Abstract excerpt
PURPOSE: Myocilin gene defects have been originally implicated in primary open angle glaucoma (POAG). Based on multiple reports for the occurrence of Gln48His mutation (c.144G>T; HGMD accession number CM023962) among Indian POAG patients, we wanted to estimate the prevalence of this mutation in primary open angle and primary congenital glaucoma (PCG) in India and assess its role in the causation of the disease....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.