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Article

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.

Human genetics - 1 Jan 2000

Berry V, Mackay D, Khaliq S, Francis P J, Hameed A, Anwar K, Mehdi S Q, Newbold R J, Ionides A, Shiels A, Moore T, Bhattacharya S S

Abstract excerpt

Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report linkage of a three-generation family of Pakistani origin with autosomal dominant cataract "zonular nuclear" pulverulent type (CZNP) on chromosome 1q21.1. Genome wide-linkage analysis excluded all the known cataract loci except on chromosome 1q. Significantly...

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Source

Identifiers

PMID: 10480374
DOI: 10.1007/s004399900094

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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