Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The major gene for Bardet-Biedl syndrome is BBS1.

Ophthalmic genetics - 1 Jun 2003

Koenekoop Robert

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bardet-Biedl Syndrome
Share to Chromosomes, Human, Pair 11
Share to BBS1 gene
Share to Microtubule-Associated Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Proteins

Source

Identifiers

PMID: 12789578
DOI: 10.1076/opge.24.2.127.13999

Genes

BBS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The major gene for Bardet-Biedl syndrome is BBS1.PMID 12789578Read ↗

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.Semantic proximity Read ↗

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].Semantic proximity Read ↗

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.Semantic proximity Read ↗

Genetics of human Bardet-Biedl syndrome, an updates.Semantic proximity Read ↗

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).Semantic proximity Read ↗

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.Semantic proximity Read ↗

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Semantic proximity Read ↗

Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.Semantic proximity Read ↗

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl SyndromeSemantic proximity Read ↗

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Semantic proximity Read ↗

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.Semantic proximity Read ↗

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.