https://www.selleckchem.com/pr....oducts/Imatinib-Mesy
Objective To identify the phenotypic, neuroimaging, and genotype-phenotype expression of MYORG mutations. Methods Using next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in SLC20A2, PDGFRB, PDGBB, and XPR1. In-depth phenotyping and neuroimaging investigations were performed in all cases reported here. Results We identified 12 distinct deleterious MYORG variants in 7 of the 60 fa
Beğen
Yorum Yap
Paylaş
