Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.

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Article

Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.

The Journal of biological chemistry - 15 Nov 1990

Su T S, Lin L H

Abstract excerpt

The cloned argininosuccinate synthetase gene from a citrullinemia patient's fibroblast cell line revealed a single base substitution (G to C) within the splice acceptor site of the last intron. The mutation abolished normal RNA splicing, and, by cDNA analysis, three abnormal splicing pathways were demonstrated. The major pathway involved the activation of a cryptic acceptor site in the last exon that resulted in...

Topics

Amino Acid Metabolism, Inborn Errors
Argininosuccinate Synthase
Base Sequence
Cell Line
Citrulline
DNA
Exons
Fibroblasts
Humans
Introns
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Hybridization

RNA Splicing

RNA, Messenger

Repetitive Sequences, Nucleic Acid

Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 2246255

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2246255-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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