Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

Kondo, Hiroyuki; Qin, Minghui; Kusaka, Shunji; Tahira, Tomoko; Hasebe, Haruyuki; Hayashi, Hideyuki; Uchio, Eiichi; Hayashi, Kenshi

Kondo, Hiroyuki; Qin, Minghui; Kusaka, Shunji; Tahira, Tomoko; Hasebe, Haruyuki; Hayashi, Hideyuki; Uchio, Eiichi; Hayashi, Kenshi.

Affiliation

Kondo H; Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan. hkondo@fukuoka-u.ac.jp

Invest Ophthalmol Vis Sci ; 48(3): 1276-82, 2007 Mar.

Article in En | MEDLINE | ID: mdl-17325173

Subject(s)

Blindness/genetics; Eye Proteins/genetics; Mutation; Nerve Tissue Proteins/genetics; Retinal Diseases/genetics; Vitreoretinopathy, Proliferative/genetics; Adolescent; Adult; Asian People/ethnology; Blindness/ethnology; Blindness/pathology; Child; Child, Preschool; Chromosomes, Human, X/genetics; DNA Mutational Analysis; Deafness/ethnology; Deafness/genetics; Deafness/pathology; Exudates and Transudates; Female; Heterozygote; Humans; Infant; Intellectual Disability/ethnology; Intellectual Disability/genetics; Intellectual Disability/pathology; Japan/epidemiology; Male; Pedigree; Phenotype; Polymerase Chain Reaction; Retinal Diseases/ethnology; Retinal Diseases/pathology; Vitreoretinopathy, Proliferative/ethnology; Vitreoretinopathy, Proliferative/pathology; X Chromosome Inactivation/genetics

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Database: MEDLINE Main subject: Retinal Diseases / Blindness / Vitreoretinopathy, Proliferative / Eye Proteins / Mutation / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Year: 2007 Type: Article

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