Functional modelling of a novel mutation in BBS5

BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18). The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties, obesity and male hypogonadism. RESULTS: We describe...

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Detalles Bibliográficos
Autores principales: Al-Hamed, Mohamed H, van Lennep, Charles, Hynes, Ann Marie, Chrystal, Paul, Eley, Lorraine, Al-Fadhly, Fatimah, El Sayed, Riham, Simms, Roslyn J, Meyer, Brian, Sayer, John A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931281/
https://www.ncbi.nlm.nih.gov/pubmed/24559376
http://dx.doi.org/10.1186/2046-2530-3-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931281/
https://www.ncbi.nlm.nih.gov/pubmed/24559376
http://dx.doi.org/10.1186/2046-2530-3-3

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