title: Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene.
authors.affiliation: Departments of Human Genetics and Pediatrics, The Mental Retardation Research Center, University of California, Los Angeles, California, USA.
authors.forename: A
authors.initials: A
authors.lastname: Gelb
authors.forename: G
authors.initials: G
authors.lastname: Manligas
authors.forename: S
authors.initials: S
authors.lastname: Gharaybeh
authors.forename: L
authors.initials: L
authors.lastname: Schimmenti
mesh_terms: D003103:Coloboma / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics; D051762:PAX2 Transcription Factor; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors; D004247:DNA