title: A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital, Beijing, China.|Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, China.
authors.forename: Li
authors.initials: L
authors.lastname: Fangting
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital, Beijing, China.|Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, China.
authors.forename: Huang
authors.initials: H
authors.lastname: Lvzhen
authors.affiliation: Department of Ophthalmology, Peking University People's Hospital, Beijing, China.|Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, China.
authors.forename: Li
authors.initials: L
authors.lastname: Xiaoxin
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins