Condition: SQUALENE SYNTHASE DEFICIENCY


rs1563339323 in FDFT1 gene and SQUALENE SYNTHASE DEFICIENCY PMID 29909962 2018 Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

rs1563290033 in FDFT1;LOC105379243 gene and SQUALENE SYNTHASE DEFICIENCY PMID 29909962 2018 Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.