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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618670/ https://www.ncbi.nlm.nih.gov/pubmed/28502102 http://dx.doi.org/10.1111/jcmm.13147 |