Associated Papers
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Gouronc A et al.
Clinical Genetics, 2020
Structure and activation mechanism of the BBSome membrane protein trafficking complex.
Singh SK et al.
Elife, 2020
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Pretorius PR et al.
Human Molecular Genetics, 2011
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.
Wiens CJ et al.
The Journal of Biological Chemistry, 2010
Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome.
Kobayashi T et al.
Biochemical and Biophysical Research Communications, 2009
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Fan Y et al.
Nature Genetics, 2004
Select a paper to view details