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Article

Speculation on the role of transposable elements in human genetic disease with particular attention to achondroplasia and the fragile X syndrome.

American journal of medical genetics - 1 Jan 2000

Hoegerman S F, Rary J M

Abstract excerpt

We suggest that mutations for fragile X-positive Martin-Bell syndrome, and perhaps also for achondroplasia, may result from the insertion of transposable elements (TE's). Loss of genetic function could result from either the insertion of TE's within or adjacent to a normal chromosomal gene or, in...

Topics

Achondroplasia
Animals
DNA Transposable Elements
Drosophila melanogaster
Female
Fragile X Syndrome
Humans
Male
Models, Genetic
Mutation
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sex Chromosome Aberrations

Source

Identifiers

PMID: 3006492
DOI: 10.1002/ajmg.1320230160

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-3006492-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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