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Article

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

Molecular vision - 11 Aug 2006

Chakarova Christina F, Cherninkova Sylvia, Tournev Ivailo, Waseem Naushin, Kaneva Radka, Jordanova Albena, Veraitch Brotati K, Gill Bhavdip, Colclough Tracy, Nakova Anastasia, Oscar Alexander, Mihaylova Violeta, Nikolova-Hill Amelia, Wright Alan F, Black Graeme C M, Ramsden Simon, Kremensky Ivo, Bhattacharya Shomi S

Abstract excerpt

PURPOSE: To identify the disease-causing mutations in two large Bulgarian Romani (Gypsy) pedigrees: one with autosomal dominant retinitis pigmentosa (adRP) with partial penetrance and the other with severe X-linked RP (xlRP). METHODS: Detailed clinical investigations were undertaken and genomic D...

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Source

Identifiers

PMID: 16917484

Genes

PRPF31
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16917484-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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