Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients | Zendy

Yar Muhammad Waryah | Zendy; Muhammad Aamir Iqbal | Zendy; Shakeel Ahmed Sheikh | Zendy; Muhammad Azhar Baig | Zendy; Ashok Kumar Narsani | Zendy; Muhammad Atif | Zendy; Munir Ahmad Bhinder | Zendy; Attiq Ur Rahman | Zendy; Azam Iqbal Memon | Zendy; Muhammad Suleman Pirzado | Zendy; Ali Muhammad Waryah | Zendy

Open Access

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients

Author(s) -

Yar Muhammad Waryah,

Muhammad Aamir Iqbal,

Shakeel Ahmed Sheikh,

Muhammad Azhar Baig,

Ashok Kumar Narsani,

Muhammad Atif,

Munir Ahmad Bhinder,

Attiq Ur Rahman,

Azam Iqbal Memon,

Muhammad Suleman Pirzado,

Ali Muhammad Waryah

Publication year - 2019

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.2019.01.02

Subject(s) - genetics , missense mutation , pedigree chart , cyp1b1 , allelic heterogeneity , genetic heterogeneity , exon , mutation , allele , gene , haplotype , phenotype , medicine , biology , cytochrome p450 , metabolism

To find the CYP1B1 mutations associated with primary congenital glaucoma (PCG) in Pakistani consanguineous pedigrees.

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