Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is an inherited metabolic disorder of leucine catabolism showing variability in clinical expression. We have examined the possibility of a biochemical and genetic basis for this heterogeneity by measuring the residual enzyme activities...

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Detaylı Bibliyografya
Asıl Yazarlar: Sovik, O, Sweetman, L, Gibson, K M, Nyhan, W L
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1984
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684482/
https://ncbi.nlm.nih.gov/pubmed/6475954
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