Article
Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma.
Genomics - 1 Mar 1995
Macina R A, Barr F G, Galili N, Riethman H C
Abstract excerpt
Mutations in the human PAX3 gene have previously been associated with two distinct diseases, Waardenburg syndrome and alveolar rhabdomyosarcoma. In this report we establish that the normal human PAX3 gene is encoded by 8 exons. Intron-exon boundary sequences were obtained for PAX3 exons 5, 6, 7,...
Topics
- Alleles
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- DNA, Satellite
- DNA-Binding Proteins
- Exons
- Female
- Gene Frequency
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Repetitive Sequences, Nucleic Acid
- Rhabdomyosarcoma, Alveolar
- Sequence Analysis, DNA