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Article

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

Investigative ophthalmology & visual science - 1 Aug 2006

Smaoui Nizar, Chaabouni Myriam, Sergeev Yuri V, Kallel Habib, Li Shouling, Mahfoudh Neila, Maazoul Faouzi, Kammoun Hassen, Gandoura Najoua, Bouaziz Asma, Nouiri Ezzedine, M'Rad Ridha, Chaabouni Habiba, Hejtmancik J Fielding

Abstract excerpt

PURPOSE: To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine the presence of triallelism in the eight identified BBS genes. METHODS: DNA samples were collected from 19 consanguineous Tunisian families with BBS. Genome-wide scans were performed with microsatellite markers in 12 families, and two-point linkage analyses were performed. Direct sequencing was used to screen patients with BBS...

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Source

Identifiers

PMID: 16877420
DOI: 10.1167/iovs.05-1334

Genes

BBS7
BBS2
BBS5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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