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Evaluation of MYORG mutations as a novel cause of primary familial brain calcification

27 Dec 2018

Abstract excerpt

BACKGROUND: Very recently, the MYORG gene was identified as a novel causative gene for autosomal-recessive primary familial brain calcification. OBJECTIVE: To investigate the clinical, genetic, and neuroradiological characteristics of primary familial brain calcification patients with biallelic MYORG mutations in China. METHODS: We collected clinical and neuroradiological data of 169 Chinese patients with primary...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30589467
DOI: 10.1002/mds.27582

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