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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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Walker, D C, McCloskey, D A, Simard, L R, McInnes, R R
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1990
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC55225/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2263616/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.24.9625
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