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Whole exome sequencing analysis identified a novel compound heterozygous c.725A  G p.Asn242Ser and c.313-3 T  G p.Lys105Valfs*16 TMEM67 variant in the proband and the affected fetus. These two variants were inherited from each parent and confirmed by Sanger sequencing. The variant c.725A  G p.Asn242Ser was previously documented in patients with JS, the novel splice-site c.313-3 T  G p.Lys105Valfs*16 TMEM67 variant produced an aberrant transcript with the loss of four nucleotides of exon 03. CONCLUSION This study confirms t