×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
GeneticVariation
CLINVAR
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
12124992 2002
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.
7581402 1995
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Conformational properties of nine purified cystathionine β-synthase mutants.
22612060 2012
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
GeneticVariation
CLINVAR
Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM.
22985361 2013
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
18708589 2008
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
9889017 1998
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
12124992 2002
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
16429402 2006
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
8744616 1996
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
20066033 2010
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
GeneticVariation
CLINVAR
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
25218699 2015
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
7849717 1994
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
12815602 2003
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
9156316 1997
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
16205833 2005
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
GeneticVariation
CLINVAR
Vascular and connective tissue features in 5 Italian patients with homocystinuria.
18280597 2009
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
7506602 1993
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
A forgotten lethal psychosis: a case report.
23812867 2014
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
7635485 1995
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
21520339 2011
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
GeneticVariation
CLINVAR
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
21520339 2011
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
9708897 1998
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
[Hospital outbreak of salmonellosis with secondary cases].
2056790 1991
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
GeneticVariation
CLINVAR
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
23733603 2013
×
Entrez Id: 875
Gene Symbol: CBS
CBS
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
0.100
CausalMutation
CLINVAR
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase].
18805305 2008