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Article

Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

The Journal of biological chemistry - 15 Mar 1991

Barbosa P, Cialkowski M, O'Brien W E

Abstract excerpt

Argininosuccinic aciduria is an inborn error of metabolism due to the genetic deficiency of argininosuccinate lyase. In order to determine the molecular basis for the disease, RNA isolated from cultured skin fibroblasts derived from four unrelated patients was reverse-transcribed and amplified using the polymerase chain reaction and the products were cloned and sequenced. Three single base missense mutations were...

Topics

Amino Acid Sequence
Animals
Argininosuccinate Lyase
Chickens
Cysteine
Ducks
Electrophoresis, Polyacrylamide Gel
Humans
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA

Rats

Saccharomyces cerevisiae

Sequence Homology, Nucleic Acid

Thymine

Source

Identifiers

PMID: 1705937

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1705937-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.PMID 1705937Read ↗

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