Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy

被引：0
作者：
Kazuki Kuniyoshi
Kazuho Ikeo
Hiroyuki Sakuramoto
Masaaki Furuno
Kazutoshi Yoshitake
Yoshikazu Hatsukawa
Akira Nakao
Kazushige Tsunoda
Shunji Kusaka
Yoshikazu Shimomura
Takeshi Iwata
机构：
[1] Kinki University Faculty of Medicine,Department of Ophthalmology
[2] National Institute of Genetics,Laboratory of DNA Data Analysis
[3] RIKEN Center for Life Science Technologies,Transcriptome Technology Team, Life Science Accelerator Technology Group, Division of Genomic Technologies
[4] Osaka Medical Center and Research Institute for Maternal and Child Health,Department of Ophthalmology
[5] National Hospital Organization Tokyo Medical Center,Laboratory of Visual Physiology, National Institute of Sensory Organs
[6] Kinki University Faculty of Medicine,Department of Ophthalmology, Sakai Hospital
[7] National Hospital Organization Tokyo Medical Center,Division of Molecular and Cellular Biology, National Institute of Sensory Organs
来源：
Documenta Ophthalmologica | 2015年 / 130卷
关键词：
Leber congenital amaurosis; Early-onset retinal dystrophy; Optical coherence tomography; Electroretinography; Visual fields; Japanese;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：49 / 55
页数：6
相关论文
共 132 条
[1]  
Leber T(1869)Ueber Retinitis pigmentosa und angeborene Amaurose Graefes Arch Klin Exp Ophthalmol 15 1-25
[2]  
Lotery AJ(2001)Mutations in the Arch Ophthalmol 119 415-420
[3]  
Jacobson SG(2004) gene cause Leber congenital amaurosis Hum Mutat 24 355-369
[4]  
Fishman GA(2004)CRB1 mutation spectrum in inherited retinal dystrophies Hum Mutat 23 306-317
[5]  
Weleber RG(2011)Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis Br J Ophthalmol 95 811-817
[6]  
Fulton AB(1999)Phenotypic variability in patients with retinal dystrophies due to mutations in Nat Genet 23 217-221
[7]  
Namperumalsamy P(2001)Mutations in a human homologue of Am J Hum Genet 69 198-203
[8]  
Héon E(2003) cause retinitis pigmentosa (RP12) J Med Genet 40 e89-77
[9]  
Levin AV(2009)Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 ( Doc Ophthalmol 118 69-228
[10]  
Grover S(2014)) gene Doc Ophthalmol 128 219-149
12345678910