Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. [electronic resource]
Producer: 20190514Description: 125-130 p. digitalISSN:- 1537-6605
- Child
- Child, Preschool
- Cholesterol -- genetics
- Enhancer Elements, Genetic -- genetics
- Farnesyl-Diphosphate Farnesyltransferase -- genetics
- Female
- Humans
- Infant
- Male
- Musculoskeletal Abnormalities -- genetics
- Promoter Regions, Genetic -- genetics
- RNA Splicing -- genetics
- Smith-Lemli-Opitz Syndrome -- genetics
- Exome Sequencing -- methods
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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