Ontology highlight
ABSTRACT:
SUBMITTER: Gonzalez-Del Pozo M
PROVIDER: S-EPMC3960054 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
González-Del Pozo María M Méndez-Vidal Cristina C Santoyo-Lopez Javier J Vela-Boza Alicia A Bravo-Gil Nereida N Rueda Antonio A García-Alonso Luz L Vázquez-Marouschek Carmen C Dopazo Joaquín J Borrego Salud S Antiñolo Guillermo G
Molecular genetics & genomic medicine 20131203 2
Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal recessive trait. However, in some families, mutations across different loci interact to modulate the expressivity of the phenotype. In order to investigate the magnitude of epistasis in one BBS family ...[more]