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Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients

Bardet–Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS/ALMS cohorts have been extensively reported, little is known about the functional effect of those changes. Thus, splicing variants are estima...

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Detalhes bibliográficos
Publicado no:J Cell Mol Med
Main Authors: Álvarez‐Satta, María, Castro‐Sánchez, Sheila, Pousada, Guillermo, Valverde, Diana
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5618670/
https://ncbi.nlm.nih.gov/pubmed/28502102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.13147
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