Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family.
作者信息
Hatsukawa Y, Nakao T, Yamagishi T, Okamoto N, Isashiki Y
机构信息
Osaka Medical Centre and Research Institute for Maternal and Child Health, Japan.
出版信息
Br J Ophthalmol. 2002 Dec;86(12):1452-3. doi: 10.1136/bjo.86.12.1452.
Abstract
摘要
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Radiol Clin North Am. 1998 Nov;36(6):1119-31, x. doi: 10.1016/s0033-8389(05)70235-9.
2
Study of the Norrie disease gene in 2 patients with bilateral persistent hyperplastic primary vitreous.两名双侧永存原始玻璃体增生症患者的诺里病基因研究。
Arch Ophthalmol. 1998 Mar;116(3):381-2.
3
Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.与早产儿晚期视网膜病变相关的诺里病基因错义突变的鉴定。
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Norrie disease. Diagnosis of a simplex case by DNA analysis.
Arch Ophthalmol. 1996 Sep;114(9):1136-8. doi: 10.1001/archopht.1996.01100140338018.
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A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.与X连锁家族性渗出性玻璃体视网膜病变相关的诺里病基因（NDP）突变。
Nat Genet. 1993 Oct;5(2):180-3. doi: 10.1038/ng1093-180.
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Mutations in the Norrie disease gene: a new mutation in a Japanese family.诺里病基因的突变：一个日裔家庭中的新突变
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Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
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