The molecular basis of malonyl-CoA decarboxylase deficiency.

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...

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Autors principals: FitzPatrick, D R, Hill, A, Tolmie, J L, Thorburn, D R, Christodoulou, J
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377930/
https://ncbi.nlm.nih.gov/pubmed/10417274
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