rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
|
19036343 |
2009 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
|
19036343 |
2009 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.
|
17459752 |
2007 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.
|
17459752 |
2007 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
|
16601870 |
2006 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
|
17173698 |
2006 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
|
16601870 |
2006 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
|
17173698 |
2006 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
|
12746442 |
2003 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
|
12746442 |
2003 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
|
11129331 |
2000 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
|
11129331 |
2000 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
|
9784232 |
1998 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
|
9463337 |
1998 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
|
9463337 |
1998 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
|
9784232 |
1998 |
rs121964997
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
|
8798725 |
1996 |
rs121964998
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
|
8798725 |
1996 |
rs727503963
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs121964996
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |
rs121964996
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
|
19036343 |
2009 |
rs1467902610
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
|
19036343 |
2009 |
rs1467902610
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
|
19177531 |
2009 |