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Article

Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling.

Ophthalmic genetics - 1 Mar 2007

Ramprasad Vedam Lakshmi, George Ronnie J, Sripriya Sarangapani, Nirmaladevi J, Vijaya Lingam, Kumaramanickavel Govindasamy

Abstract excerpt

The genetic background of congenital glaucoma in a consanguineous south Indian family was examined by homozygosity analyses. Significant evidence for the homozygosity of alleles was detected for markers D2S177 and D2S1346 that are tightly linked to the CYP1B1 gene, and further involvement of this gene was confirmed by the co-segregation of a novel truncating mutation (Q110X) in exon 2 with the disease in all...

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PMID: 17454743
DOI: 10.1080/13816810701199449

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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