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.