Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
Hjortshøj, Tina Duelund; Grønskov, Karen; Philp, Alisdair R; Nishimura, Darryl Y; Adeyemo, Adebowale; Rotimi, Charles N; Sheffield, Val C; Rosenberg, Thomas; Brøndum-Nielsen, Karen.
Am J Med Genet A
; 146A(4): 517-20, 2008 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-18203199
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
[Progress of research on Bardet-Biedl syndrome].
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Le syndrome de Bardet - Biedl chez l'enfant. Etude de 11 observations.
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.