×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
25125334
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
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
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
25125334
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
25125334
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
7912889
1994
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
9285782
1997
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.
25299208
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
26615597
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
1977311
1990
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
A common mutation among blacks with mut- methylmalonic aciduria.
9452100
1998
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
CLINGEN
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
26449400
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
26270765
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
8880917
1996
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
17957493
2008
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.
23479330
2013
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
CLINGEN
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
1970180
1990
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
20549364
2010
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
27167370
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
24865477
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.
24464670
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
1977311
1990
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
23045948
2012
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
26615597
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
7912889
1994
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Neurocognitive phenotype of isolated methylmalonic acidemia.
22614770
2012