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Article

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Investigative ophthalmology & visual science - 1 Nov 2007

Mataftsi Asimina, Schorderet Daniel F, Chachoua Louisa, Boussalah Myriam, Nouri Mohamed T, Barthelmes Daniel, Borruat François-Xavier, Munier Francis L

Abstract excerpt

PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with markers flanking 12 loci associated with LCA. The 15 exons of TULP1 were sequenced. RESULTS: Seven...

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Source

Identifiers

PMID: 17962469
DOI: 10.1167/iovs.06-1013

Genes

TULP1
RPE

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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