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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
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 |
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