|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
|
28101778 |
2017 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.
|
28811685 |
2017 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
|
27167370 |
2016 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
|
26615597 |
2016 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
|
27167370 |
2016 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
|
24865477 |
2014 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
|
24865477 |
2014 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
|
25125334 |
2014 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
|
22727635 |
2012 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.
|
19588269 |
2009 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
|
17957493 |
2008 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
|
17113806 |
2007 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
|
17113806 |
2007 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
|
17113806 |
2007 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
|
16281286 |
2006 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
|
16281286 |
2006 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
|
15643616 |
2005 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
|
15781192 |
2005 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
|
11350191 |
2001 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
|
10923046 |
2000 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A common mutation among blacks with mut- methylmalonic aciduria.
|
9452100 |
1998 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Seven novel mutations in mut methylmalonic aciduria.
|
9554742 |
1998 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
|
9285782 |
1997 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
|
8880917 |
1996 |
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
|
7912889 |
1994 |