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Sequencing of SH3TC2 gene showed SNP rs1025476 (g.57975CT) in 21 (87.5%) patients, including 7 homozygous and 14 heterozygous individuals. Conclusion Despite the high rate of mutations in some populations, it seems that they are very rare in Iranian CMT4D patients. Regarding the association of SNP rs1025476 with CMT4D, further assessments are needed to reach a better understanding of genetic markers and their genetic features and to propose better diagnostic and treatment plans for the Iranian population.Acute necrotizing encephalopath
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