https://www.selleckchem.com/pr....oducts/gsk-j4-hcl.ht
The c.542G A, p.(Arg181Gln) variant is only the fourth variant in MATN3 causing an autosomal recessive disorder and thus expands the genotypic spectrum.Thirty patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS) deficiency, which is a rare autosomal recessive disorder caused by HMGCS2 gene mutation are known. Here, we present four new patients with this disease. The characteristics including several metabolites of patients were recorded. Next-generation targeted sequencing and multiple sequence alignment o
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