3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
|
28018443 |
2016 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
|
27601257 |
2016 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
|
16010683 |
2005 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
22642865 |
2012 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
22642865 |
2012 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
|
16010683 |
2005 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
|
11170888 |
2001 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
|
11181649 |
2001 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
|
22264772 |
2012 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
|
11181649 |
2001 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
|
22264772 |
2012 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
|
21071250 |
2011 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
|
22150417 |
2012 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
|
22030835 |
2012 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
|
22150417 |
2012 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.
|
17908719 |
2007 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
|
17968484 |
2007 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
|
27601257 |
2016 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
|
25382614 |
2015 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
|
11406611 |
2001 |
3-methylcrotonyl CoA carboxylase 2 deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.
|
17968484 |
2007 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
|
22264772 |
2012 |
3-methylcrotonyl CoA carboxylase 1 deficiency
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
|
16835865 |
2006 |
Propionic acidemia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Thus, we have constructed three site-directed mutants of biotin carboxylase that are homologous to three missense mutations found in propionic acidemia or methylcrotonylglycinuria patients.
|
14960587 |
2004 |
Myocardial Infarction
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.
|
21211798 |
2011 |