Mutation Screening of the CYP1B1 Gene Reveals Novel and Recurrent Pathogenic Variants in Pakistani Primary Congenital Glaucoma Patients

Mutation Screening of the CYP1B1 Gene Reveals Novel and Recurrent Pathogenic Variants in Pakistani Primary Congenital Glaucoma Patients

OBJECTIVE: To identify the pathogenic alleles in primary congenital glaucoma patients for early cure of the disease   METHODOLOGY:  A cross-sectional descriptive study was carried out after approval from the ethical committee of SIOVS from December 2022 to November 2023 at Sindh Institute of Ophtha...

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Bibliographic Details
Main Authors: Waqas Ali Surhio, Feriha Fatima Khidri, Mohsin Iqbal Haroon, Samia Mehmood, Yar Muhammad Waryah
Format: Article
Language:English
Published: Liaquat University of Medical and Health Sciences 2024-01-01
Series:JLUMHS
Subjects:
cyp1b1
primary congenital glaucoma
consanguineous pedigree
pcg mutation
sequencing/diagnostic testing
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