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Article

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Journal of medical genetics - 1 Jul 2014

Ajmal Muhammad, Khan Muhammad Imran, Neveling Kornelia, Khan Yar Muhammad, Azam Maleeha, Waheed Nadia Khalida, Hamel Christian P, Ben-Yosef Tamar, De Baere Elfride, Koenekoop Robert K, Collin Rob W J, Qamar Raheel, Cremers Frans P M

Abstract excerpt

BACKGROUND: Retinitis pigmentosa (RP) is the most frequent inherited retinal disease, which shows a relatively high incidence of the autosomal-recessive form in Pakistan. METHODS: Genome-wide high-density single-nucleotide polymorphism (SNP) microarrays were used to identify homozygous regions shared by affected individuals of one consanguineous family. DNA of three affected and two healthy siblings was used for...

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Source

Identifiers

PMID: 24737827
DOI: 10.1136/jmedgenet-2014-102316

Genes

DHX38

Variants

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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