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Article

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

JAMA ophthalmology - 1 Mar 2015

Shevach Elia, Ali Manir, Mizrahi-Meissonnier Liliana, McKibbin Martin, El-Asrag Mohammed, Watson Christopher M, Inglehearn Chris F, Ben-Yosef Tamar, Blumenfeld Anat, Jalas Chaim, Banin Eyal, Sharon Dror

Abstract excerpt

IMPORTANCE: A large number of genes can cause inherited retinal degenerations when mutated. It is important to identify the cause of disease for a better disease prognosis and a possible gene-specific therapeutic intervention. OBJECTIVE: To identify the cause of disease in families with nonsyndromic retinitis pigmentosa. DESIGN, SETTING, AND PARTICIPANTS: Patients and family members were recruited for the study...

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Source

Identifiers

PMID: 25541840
DOI: 10.1001/jamaophthalmol.2014.5251

Genes

BBS2

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.

Related research

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Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.PMID 25541840Read ↗

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