Coman, David <br/><br/>
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.  [electronic resource] 

 -  American journal of human genetics  07 2018 
 - 125-130 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2018.05.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Cholesterol--genetics<br/>Enhancer Elements, Genetic--genetics<br/>Farnesyl-Diphosphate Farnesyltransferase--genetics<br/>Female<br/>Humans<br/>Infant<br/>Male<br/>Musculoskeletal Abnormalities--genetics<br/>Promoter Regions, Genetic--genetics<br/>RNA Splicing--genetics<br/>Smith-Lemli-Opitz Syndrome--genetics<br/>Exome Sequencing--methods