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Article

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Molecular vision - 1 Jan 2014

Siemiatkowska Anna M, van den Born L Ingeborgh, van Genderen Maria M, Bertelsen Mette, Zobor Ditta, Rohrschneider Klaus, van Huet Ramon A C, Nurohmah Siska, Klevering B Jeroen, Kohl Susanne, Faradz Sultana M H, Rosenberg Thomas, den Hollander Anneke I, Collin Rob W J, Cremers Frans P M

Abstract excerpt

PURPOSE: The gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies. METHODS: DNA samples of 161 patients with LCA...

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Source

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Identifiers

PMID: 24940029
PMCID: PMC4043607

Genes

NMNAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.PMID 24940029Read ↗

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