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Article

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.

Human genetics - 1 Jan 2000

Krawczak M, Reiss J, Cooper D N

Abstract excerpt

A total of 101 different examples of point mutations, which lie in the vicinity of mRNA splice junctions, and which have been held to be responsible for a human genetic disease by altering the accuracy of efficiency of mRNA splicing, have been collated. These data comprise 62 mutations at 5' splice sites, 26 at 3' splice sites and 13 that result in the creation of novel splice sites. It is estimated that up to...

Topics

Consensus Sequence
Exons
Genes
Genetic Diseases, Inborn
Humans
Introns
Phenotype
Point Mutation
RNA Precursors
RNA Splicing
RNA, Messenger

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1427786
DOI: 10.1007/BF00210743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1427786-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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