| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:author |
Hennekam RC,
Kelley RI,
Koster J,
Mooyer P,
Noort Gv G,
Oosterwijk JC,
Wanders RJ,
Waterham HR,
Wilcox WR
|
| biopax3:db |
PubMed
|
| biopax3:id |
12618959
|
| biopax3:source |
Am J Hum Genet 72(4);1013-7
|
| biopax3:title |
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
|
| biopax3:year |
2003
|