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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2018
Gaiak:
Report
Sarrera elektronikoa: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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