rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
|
7929823 |
1994 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
|
9882619 |
1999 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
|
11486912 |
2001 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
|
8198141 |
1994 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Frequency of the G985 MCAD mutation in the general population.
|
1671131 |
1991 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
2393404 |
1990 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
10767181 |
2000 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
|
11349232 |
2001 |
rs121434283
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
|
11349232 |
2001 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and functional characterisation of mild MCAD deficiency.
|
11409868 |
2001 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.
|
2394825 |
1990 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
|
2251268 |
1990 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.
|
1902818 |
1991 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
|
1684086 |
1991 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
|
1363805 |
1992 |
rs121434283
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
|
17273963 |
2007 |
rs121434283
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |