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Article

Deletion and insertion mutations in short tandem repeats in the coding regions of human genes.

European journal of human genetics : EJHG - 1 Jan 1995

Darvasi A, Kerem B

Abstract excerpt

In vitro studies in bacterial, yeast and eukaryotic systems have demonstrated the existence of deletion and insertion 'hot-spots' involving repetitive sequences. Slipped-strand mispairing (SSM) has been suggested to be the mechanism involved. Progress in human molecular genetics has allowed the identification of many mutations causing diseases. Analysis of sequences involved in these mutations provides an...

Topics

Base Composition
Base Sequence
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Factor IX
Globins
Humans
Membrane Proteins
Molecular Sequence Data
Mutagenesis, Insertional
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repetitive Sequences, Nucleic Acid

Sequence Deletion

Source

Identifiers

PMID: 7539330
DOI: 10.1159/000472269

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7539330-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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