title: Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1.
abstract: Genomic DNA from probands of various Waardenburg syndrome (WS) families were PCR-amplified using primers flanking the 8 exons of PAX3. The PCR fragments were screened for sequence variants, and subsequently cycle sequenced. Mutations were detected in exon 6 for 3 probands of WS type 1 families. These mutations all occur in the paired homeodomain DNA-binding motif.
authors.affiliation: Department of Zoology, Michigan State University, East Lansing 48824-1115, USA.
authors.forename: R
authors.initials: R
authors.lastname: Morell
authors.forename: M L
authors.initials: ML
authors.lastname: Carey
authors.forename: A K
authors.initials: AK
authors.lastname: Lalwani
authors.forename: T B
authors.initials: TB
authors.lastname: Friedman
authors.forename: J H
authors.initials: JH
authors.lastname: Asher
mesh_terms: D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005801:Genes, Homeobox / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000235:genetics*