title: Novel human pathological mutations. Gene symbol: PAX3. Disease: Waardenburg syndrome.
authors.affiliation: Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005091:Exons; D006801:Humans; D016254:Mutagenesis, Insertional; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D003062:Codon; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors