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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...
Uloženo v:
| Vydáno v: | J Cell Mol Med |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2017
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| 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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