Article
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.
Investigative ophthalmology & visual science - 1 Mar 2007
Kondo Hiroyuki, Qin Minghui, Kusaka Shunji, Tahira Tomoko, Hasebe Haruyuki, Hayashi Hideyuki, Uchio Eiichi, Hayashi Kenshi
Abstract excerpt
PURPOSE: To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. METHODS: Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands...
Topics
- Adolescent
- Adult
- Asian People
- Blindness
- Child
- Child, Preschool
- Chromosomes, Human, X
- DNA Mutational Analysis
- Deafness
- Exudates and Transudates
- Eye Proteins
- Female
- Heterozygote