טוען...
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
Ciliopathies are a group of heterogeneous disorders associated with ciliary dysfunction. Diseases in this group display considerable phenotypic variation within individual syndromes and overlapping phenotypes among clinically distinct disorders. Particularly, mutations in CEP290 cause phenotypically...
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| Main Authors: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Oxford University Press
2014
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3857943/ https://ncbi.nlm.nih.gov/pubmed/23943788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt394 |
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