Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.

Argininosuccinate lyase (AS lyase) deficiency is an inborn error of the urea cycle with extensive clinical and genetic heterogeneity. We investigated the biochemical basis of the enzyme defect and the genetic heterogeneity in this disorder using sodium dodecyl sulfate-polyacrylamide gel electrophore...

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Detaylı Bibliyografya
Asıl Yazarlar: Simard, L, O'Brien, W E, McInnes, R R
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1986
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684030/
https://ncbi.nlm.nih.gov/pubmed/3752080
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