Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

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 r...

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Detalles Bibliográficos
Autores principales: González-del Pozo, María, Méndez-Vidal, Cristina, Santoyo-Lopez, Javier, Vela-Boza, Alicia, Bravo-Gil, Nereida, Rueda, Antonio, García-Alonso, Luz, Vázquez-Marouschek, Carmen, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960054/
https://www.ncbi.nlm.nih.gov/pubmed/24689075
http://dx.doi.org/10.1002/mgg3.50

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960054/
https://www.ncbi.nlm.nih.gov/pubmed/24689075
http://dx.doi.org/10.1002/mgg3.50

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