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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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Podrobná bibliografie
Vydáno v:J Cell Mol Med
Hlavní autoři: Álvarez‐Satta, María, Castro‐Sánchez, Sheila, Pousada, Guillermo, Valverde, Diana
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2017
Témata:
On-line přístup: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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