https://www.selleckchem.com/pr....oducts/sotrastaurin-
In the proband, we identified the missense mutation c.1153G T (p. Asp385Tyr), located in exon 11 of the COMP gene. This mutation was assessed as 'pathogenic' because of its low allele frequency and its high likelihood of co-segregation with disease in the reported family. Sanger sequencing validated the novel heterozygous mutation c.1153G T (p. Asp385Tyr) in exon 11 of COMP in all affected individuals in the family. Conclusions Our results underlined a key role of the Asp385 amino acid in the protein function of CO
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