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A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.

Investigative ophthalmology & visual science - 1 Jul 2002

Khaliq Shagufta, Hameed Abdul, Ismail Muhammad, Anwar Khalid, Mehdi S Qasim

Abstract excerpt

PURPOSE: To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract. METHODS: Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calculated by using...

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PMID: 12091400

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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