Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

Argininosuccinic acid lyase (ASAL) deficiency is a clinically heterogeneous autosomal recessive urea cycle disorder. We previously established by complementation analysis that 28 ASAL-deficient patients have heterogeneous mutations in a single gene. To prove that the ASAL structural gene is the affe...

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Bibliographische Detailangaben
Hauptverfasser: Walker, D C, McCloskey, D A, Simard, L R, McInnes, R R
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1990
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC55225/
https://ncbi.nlm.nih.gov/pubmed/2263616
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