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Details on Person Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

Class:IdLiteratureReference:5602854
_displayNameClinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations
_timestamp2014-06-25 13:10:34
author[Person:5602853] Arnoldi, A
[Person:5602921] Crimella, C
[Person:5602925] Tenderini, E
[Person:5602840] Martinuzzi, A
[Person:5603021] D'Angelo, M G
[Person:5602936] Musumeci, O
[Person:5603007] Toscano, A
[Person:5603001] Scarlato, M
[Person:5603023] Fantin, M
[Person:5602927] Bresolin, N
[Person:4088072] Bassi, M T
created[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
journalClin. Genet.
pages150-7
pubMedIdentifier21214876
titleClinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations
volume81
year2012
(literatureReference)[FailedReaction:5602885] Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL [Homo sapiens]
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