Condition: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
rs116171274 in
CYP7B1 gene and
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
PMID 22384504 2012 CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
PMID 24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
PMID 19439420 2009 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
PMID 18252231 2008 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
PMID 26714052 2016 Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
PMID 21214876 2012 Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
PMID 21567895 2011 Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient.
PMID 21541746 2012 Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
PMID 24658845 2014 Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
PMID 21452256 2011 Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.