Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Biochemical and biophysical research communications - 31 Aug 1990

Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates P M, Bachmann C, Elsas L J, Pollitt R J, Rhead W J, Roe C R

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common recessively inherited metabolic diseases in man. We have studied fibroblast cultures obtained from three patients with MCAD deficiency by sequencing the entire coding region of MCAD mRNA. A single A to G nucleotide replacement which resulted in lysine329-to-glutamic acid329 substitution of the MCAD protein was identified in all...

Topics

Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases
Base Sequence
Genes
Humans
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Oligonucleotides
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA, Messenger

Source

Identifiers

PMID: 2393404
DOI: 10.1016/0006-291x(90)91421-n

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2393404-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.PMID 2393404Read ↗

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

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

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 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 ↗

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

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

Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency.Semantic proximity Read ↗

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

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.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 (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.