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Article

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.

Human genetics - 1 Apr 2001

Bareil C, Hamel C P, Delague V, Arnaud B, Demaille J, Claustres M

Abstract excerpt

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases leading to blindness. By performing full genome linkage analysis in a consanguineous French family affected with severe autosomal recessive RP, we have excluded linkage to known loci involved in RP and mapped a novel locus to chromosome 16q13-q21 (Zmax=2.83 at theta=0 at the D16S3089 locus). Two candidate genes KIFC3...

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Share to Chromosome Segregation
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic GMP

Share to Cyclic Nucleotide-Gated Cation Channels

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Share to Rod Cell Outer Segment

Source

Identifiers

PMID: 11379879
DOI: 10.1007/s004390100496

Genes

CNGB1
KIFC3

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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