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Article

Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

American journal of human genetics - 1 Jan 1992

Ding J H, Yang B Z, Bao Y, Roe C R, Chen Y T

Abstract excerpt

A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have detected a new mutation in an MCAD-deficient patient in whom one MCAD allele produces mRNA that is...

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PMID: 1729890
PMCID: PMC1682518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.PMID 1729890Read ↗

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.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.Semantic proximity Read ↗

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.Semantic proximity Read ↗

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.Semantic proximity Read ↗

Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.Semantic proximity Read ↗

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