|
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
|
25940036 |
2015 |
|
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
|
21083904 |
2010 |
|
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
|
18241067 |
2008 |
|
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
|
16291504 |
2006 |
|
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
|
16291504 |
2006 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
|
11486912 |
2001 |
|
rs121434278
|
|
|
0.810 |
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 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular and functional characterisation of mild MCAD deficiency.
|
11409868 |
2001 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
10767181 |
2000 |
|
rs121434278
|
|
|
0.810 |
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 |
|
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |
|
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
|
9158144 |
1997 |
|
rs121434278
|
|
|
0.810 |
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 |
|
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life.
|
7929823 |
1994 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
|
8198141 |
1994 |
|
rs121434278
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life.
|
7929823 |
1994 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This novel mutation, G583A, is associated with severe MCAD deficiency causing hypoglycemia or sudden, unexpected neonatal death.
|
7929823 |
1994 |
|
rs121434278
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
Four compound heterozygote individuals from two unrelated families with A985G on one allele and a novel G to A mutation at nucleotide 583 (G583A) as the second mutant allele presented with MCAD deficiency in the first week of life.
|
7929823 |
1994 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
|
1363805 |
1992 |
|
rs121434278
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Frequency of the G985 MCAD mutation in the general population.
|
1671131 |
1991 |
|
rs121434278
|
|
|
0.810 |
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 |
|
rs121434278
|
|
|
0.810 |
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 |