MYORG is associated with recessive primary familial brain calcification

OBJECTIVE: To investigate the genetic basis of the recessive form of primary familial brain calcification and study pathways linking a novel gene with known dominant genes that cause the disease. METHODS: Whole exome sequencing and Sanger‐based segregation analysis were used to identify possible dis...

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Detalles Bibliográficos
Autores principales: Arkadir, David, Lossos, Alexander, Rahat, Dolev, Abu Snineh, Muneer, Schueler‐Furman, Ora, Nitschke, Silvia, Minassian, Berge A., Sadaka, Yair, Lerer, Israela, Tabach, Yuval, Meiner, Vardiella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331209/
https://www.ncbi.nlm.nih.gov/pubmed/30656188
http://dx.doi.org/10.1002/acn3.684

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331209/
https://www.ncbi.nlm.nih.gov/pubmed/30656188
http://dx.doi.org/10.1002/acn3.684

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