title: De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity.
authors.forename: S J
authors.initials: SJ
authors.lastname: Talks
authors.forename: N
authors.initials: N
authors.lastname: Ebenezer
authors.forename: P
authors.initials: P
authors.lastname: Hykin
authors.forename: G
authors.initials: G
authors.lastname: Adams
authors.forename: F
authors.initials: F
authors.lastname: Yang
authors.forename: E
authors.initials: E
authors.lastname: Schulenberg
authors.forename: K
authors.initials: K
authors.lastname: Gregory-Evans
authors.forename: C Y
authors.initials: CY
authors.lastname: Gregory-Evans
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*; D012178:Retinopathy of Prematurity / Q000235:genetics* / Q000503:physiopathology; D014427:Twins / Q000235:genetics
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D022821:RNA Splice Sites