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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
The short rib polydactyly syndromes (SRPS) are a heterogeneous group of autosomal recessive, perinatal-lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs, and poly-dactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they d...
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| I publikationen: | Nat Commun |
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| Huvudupphovsmän: | , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2015
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4470332/ https://ncbi.nlm.nih.gov/pubmed/26077881 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms8092 |
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