ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated with pathogenic variants in known JBTS-associated g...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6174286/
https://ncbi.nlm.nih.gov/pubmed/30269812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.08.015
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