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Article

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jul 2007

den Hollander Anneke I, van Lith-Verhoeven Janneke J C, Arends Maarten L, Strom Tim M, Cremers Frans P M, Hoyng Carel B

Abstract excerpt

OBJECTIVE: To describe the clinical characteristics and determine the genetic defect in a Surinamese family with autosomal recessive retinitis pigmentosa. METHODS: Family members underwent blood sampling and ophthalmologic examinations. After exclusion of all known mutations in all genes involved...

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Source

Identifiers

PMID: 17620573
DOI: 10.1001/archopht.125.7.932

Genes

TULP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17620573-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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