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Article

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Journal of medical genetics - 1 Jul 2015

Pras Eran, Kristal Dana, Shoshany Nadav, Volodarsky Dina, Vulih Inna, Celniker Gershon, Isakov Ofer, Shomron Noam, Pras Elon

Abstract excerpt

PURPOSE: To explore the molecular basis of familial, early onset, age-related macular degeneration (AMD) with diverse phenotypes, using whole exome sequencing (WES). METHODS: We performed WES on four patients (two sibs from two families) manifesting early-onset AMD and searched for disease-causing genetic variants in previously identified macular degeneration related genes. Validation studies of the variants...

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Identifiers

PMID: 25986072
DOI: 10.1136/jmedgenet-2015-103130

Genes

CFI
HMCN1

Variants

Provenance

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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