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Article

Autosomal dominant macular dystrophy in a large Canadian family.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Feb 2003

Donoso Larry A, Hageman Gregory, Frost Arcilee, Sheffield Val, Beck John, Hébert Marc, MacDonald Ian M

Abstract excerpt

BACKGROUND: We studied a large Canadian family (178 total family members) spanning seven generations with autosomal dominant macular dystrophy. We performed a study to identify the gene mutation responsible for the disease in the family. METHODS: Participating family members were evaluated clinically. Genetic linkage, genotyping, mutation screening and an extensive genealogic investigation were performed....

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Identifiers

PMID: 12608515
DOI: 10.1016/s0008-4182(03)80006-6

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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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