|
rs794727835
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs766453711
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs5742905
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
[Hospital outbreak of salmonellosis with secondary cases].
|
2056790 |
1991 |
|
rs5742905
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
|
1301198 |
1992 |
|
rs121964962
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
|
7506602 |
1993 |
|
rs781444670
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
|
7849717 |
1994 |
|
rs5742905
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
|
7635485 |
1995 |
|
rs5742905
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
|
7611293 |
1995 |
|
rs1347651454
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
|
7635485 |
1995 |
|
rs121964964
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
|
7762555 |
1995 |
|
rs121964962
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.
|
7581402 |
1995 |
|
rs5742905
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
|
8803779 |
1996 |
|
rs28934891
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
|
8755636 |
1996 |
|
rs121964962
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
|
8744616 |
1996 |
|
rs777919630
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
|
9156316 |
1997 |
|
rs121964972
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
|
9156316 |
1997 |
|
rs786204757
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
|
9889017 |
1998 |
|
rs760417941
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
|
9870207 |
1998 |
|
rs5742905
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
|
9708897 |
1998 |
|
rs148865119
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
|
9587029 |
1998 |
|
rs1347651454
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
|
10215408 |
1998 |
|
rs121964962
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
|
9889017 |
1998 |
|
rs779270933
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutations in homocystinuria.
|
10338090 |
1999 |
|
rs763290176
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutations in homocystinuria.
|
10338090 |
1999 |
|
rs757428597
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Cystathionine beta-synthase mutations in homocystinuria.
|
10338090 |
1999 |