Abstract |
|
Authors | R Huijgen, A D M Stork, J C Defesche, J Peter, R Alonso, A Cuevas, J J P Kastelein, M Duran, E S G Stroes |
Journal | Clinical genetics
(Clin Genet)
Vol. 81
Issue 1
Pg. 24-8
(Jan 2012)
ISSN: 1399-0004 [Electronic] Denmark |
PMID | 21955034
(Publication Type: Case Reports, Journal Article)
|
Copyright | © 2011 John Wiley & Sons A/S. |
Chemical References |
- Receptors, LDL
- CYP27A1 protein, human
- Cholestanetriol 26-Monooxygenase
|
Topics |
- Achilles Tendon
(pathology)
- Adult
- Cholestanetriol 26-Monooxygenase
(genetics)
- Genetic Testing
- Humans
- Hyperlipoproteinemia Type II
(complications, diagnosis, genetics, pathology)
- Male
- Mutation
- Receptors, LDL
(genetics)
- Xanthomatosis, Cerebrotendinous
(complications, diagnosis, genetics, pathology)
- Young Adult
|