|
rs121908096
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The generated line iPS-CTX-R395S has no sign of plasmid integration or chromosomal aberration and retained the mutation site in CYP27A1.
|
27879219 |
2016 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
|
26156051 |
2016 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.
|
26906304 |
2016 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis.
|
25983621 |
2015 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
|
24746394 |
2015 |
|
rs121908096
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The prevalence of CTX due to the CYP27A1 mutation R362C alone is approximately 1/50,000 in Caucasians.
|
25424010 |
2014 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.
|
21955034 |
2012 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
|
21645175 |
2011 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Four novel CYP27A1 mutations in seven Italian patients with CTX.
|
20402754 |
2010 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.
|
18227423 |
2008 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.
|
17697869 |
2007 |
|
rs121908096
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The prevalence of CTX due to CYP27 mutation R362C alone is approximately 1 per 50,000 among white individuals.
|
16157755 |
2005 |
|
rs121908096
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
|
12000359 |
2002 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
|
10775536 |
2000 |
|
rs121908096
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.
|
9790667 |
1998 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.
|
9790667 |
1998 |
|
rs121908096
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.
|
9186905 |
1997 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene.
|
8950197 |
1996 |
|
rs121908096
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
|
7915755 |
1994 |
|
rs121908096
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.
|
2019602 |
1991 |
|
rs121908096
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.
|
2019602 |
1991 |
|
rs121908096
|
|
T |
0.830 |
GeneticVariation |
CLINVAR |
|
|
|