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Article

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

Annals of laboratory medicine - 1 Jan 2015

Shin Seok Joon, Kim Myungshin, Chae Hyojin, Kwon Ahlm, Kim Yonggoo, Kim Sung Jun, Yoon Hye Eun, Jekarl Dong Wook, Lee Seungok

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Identifiers

PMID: 25553308
DOI: 10.3343/alm.2015.35.1.181
PMCID: PMC4272959

Genes

BBS7

Provenance

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.PMID 25553308Read ↗

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

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

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.Semantic proximity Read ↗

Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the BBS10 Gene in Chinese People With Bardet Biedl syndromeSemantic proximity Read ↗

The major gene for Bardet-Biedl syndrome is BBS1.Semantic proximity Read ↗

The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.Semantic proximity Read ↗

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.Semantic proximity Read ↗

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

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.Semantic proximity Read ↗

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

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.Semantic proximity Read ↗

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.Semantic proximity Read ↗

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