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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
BACKGROUND: In chicken, loss of TALPID3 results in non-functional cilia and short-rib polydactyly syndrome. This phenotype is caused by a frameshift mutation in the chicken ortholog of the human KIAA0586 gene, which encodes a novel coiled-coil domain protein essential for primary ciliogenesis, sugge...
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| Vydáno v: | J Med Genet |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5517294/ https://ncbi.nlm.nih.gov/pubmed/26386044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103316 |
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