| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:author |
Andersson HC,
FitzPatrick DR,
Hennekam RC,
Kelley RI,
Koster J,
Romeijn GJ,
Vreken P,
Wanders RJ,
Waterham HR
|
| biopax3:db |
PubMed
|
| biopax3:id |
11519011
|
| biopax3:source |
Am J Hum Genet 69(4);685-94
|
| biopax3:title |
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
| biopax3:year |
2001
|