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Article

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.

Molecular vision - 1 Jan 2012

Ajmal Muhammad, Khan Muhammad Imran, Micheal Shazia, Ahmed Waqas, Shah Ashfa, Venselaar Hanka, Bokhari Habib, Azam Aisha, Waheed Nadia Khalida, Collin Rob W J, den Hollander Anneke I, Qamar Raheel, Cremers Frans P M

Abstract excerpt

PURPOSE: To identify the genetic defects underlying retinitis pigmentosa (RP) in Pakistani families. METHODS: Genome-wide high-density single-nucleotide-polymorphism microarray analysis was performed using the DNA of nine affected individuals from two large families with multiple consanguineous marriages. Data were analyzed to identify homozygous regions that are shared by affected sibs in each family. Sanger...

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Source

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Identifiers

PMID: 22665969
PMCID: PMC3365133

Genes

TULP1

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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