PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

doi:10.1093/hmg/3.7.1069

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Article

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

Human molecular genetics - 1 Jul 1994

Tassabehji M, Newton V E, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read A P

Abstract excerpt

The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the embryo. We describe the exon-intron structure of the homeobox-containing part of PAX3, complementing earlier descriptions of the 5' part of the gene. Mutations in PAX3...

Topics

Animals
Base Sequence
Cell Movement
Chromosomes, Human, Pair 2
DNA Mutational Analysis
DNA-Binding Proteins
Exons
Genes
Genes, Homeobox
Humans
Infant, Newborn
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Mice, Mutant Strains

Molecular Sequence Data

Neural Crest

PAX3 Transcription Factor

Paired Box Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 7981674
DOI: 10.1093/hmg/3.7.1069

Genes

PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7981674-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.PMID 7981674Read ↗

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