The many faces of KIF7

Mutations in KIF7, the gene that encodes a component of the kinesin complex of anterograde intraflagellar transport in the cilia, have been reported to cause a range of phenotypes including hydrolethalis, acrocallosal syndrome and Joubert syndrome. In a cohort of patients with various neurogenetic p...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Barakeh, Duna, Faqeih, Eissa, Anazi, Shams, S Al-Dosari, Mohammed, Softah, Ameen, Albadr, Fahad, Hassan, Hamdy, Alazami, Anas M, Alkuraya, Fowzan S
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Review Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785560/
https://ncbi.nlm.nih.gov/pubmed/27081521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.6
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