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Article

Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.

Journal of cellular and molecular medicine - 1 Oct 2017

Álvarez-Satta María, Castro-Sánchez Sheila, Pousada Guillermo, Valverde Diana

Abstract excerpt

Bardet-Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS/ALMS cohorts have been extensively reported, little is known about the functional effect of those changes. Thus, splicing variants are estimated to represent 15% of disease-causing mutations, and there is growing evidence that many exonic changes are really...

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Source

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Identifiers

PMID: 28502102
DOI: 10.1111/jcmm.13147
PMCID: PMC5618670

Genes

ALMS1
ARL6
BBS2
BBS4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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