|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
High 985A-->G carrier frequencies in populations of European descent and the usual avoidance of recurrent disease episodes by patients diagnosed with MCAD deficiency who comply with a simple dietary treatment suggest that MCAD deficiency is a candidate in prospective screening of newborns.
|
11349232 |
2001 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
|
11486912 |
2001 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular and functional characterisation of mild MCAD deficiency.
|
11409868 |
2001 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
10767181 |
2000 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
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 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
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 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
|
7603790 |
1995 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
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 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Most patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985), causing a change from lysine to glutamate at position 304 (K304E) in the mature MCAD.
|
8198141 |
1994 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
|
1363805 |
1992 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Frequency of the G985 MCAD mutation in the general population.
|
1671131 |
1991 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
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 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
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 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
|
2251268 |
1990 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
|
2393404 |
1990 |
|
rs77931234
|
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
|
0.900 |
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 |