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Article

The molecular basis of malonyl-CoA decarboxylase deficiency.

American journal of human genetics - 1 Aug 1999

FitzPatrick D R, Hill A, Tolmie J L, Thorburn D R, Christodoulou J

Abstract excerpt

We characterized a 2.1-kb human cDNA with a 1362-bp (454-amino acid) open reading frame showing 70.3% amino acid identity to goose malonyl-CoA decarboxylase (MCD). We have identified two different homozygous mutations in human MCD (hMCD) by using RT-PCR analysis of fibroblast RNA from two previously reported consanguineous Scottish patients with MCD deficiency. The first mutation is a 442C-->G transversion...

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Identifiers

PMID: 10417274
DOI: 10.1086/302492
PMCID: PMC1377930

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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