Article
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1990
Walker D C, McCloskey D A, Simard L R, McInnes R R
Abstract excerpt
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 affected locus, we sequenced polymerase chain reaction-amplified ASAL cDNA of a representative mutant from the single...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.