A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
about
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophyExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosaA novel GUCY2D mutation in a Chinese family with dominant cone dystrophyGene therapy for retinal diseaseAnimal modelling for inherited central vision loss.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
P2860
Q27309443-3E5B69CB-7CD7-4679-8214-47914327085AQ28533822-3C204752-54DB-4861-A64A-4FA36D1C6913Q34976923-8B454073-D030-4167-B22D-127A99E1D4DFQ36881449-D28EBA07-784C-4595-9E3A-2A718C5D00AAQ36890510-85EBE550-2A6F-4AD6-B691-3C49BBD49BE9Q38073020-B76590EC-E1DA-4333-968E-A9ABE7B72B3DQ38589892-C5C1C763-9684-4BC0-BD4A-6E4C75CCA8D1Q38970287-EBBD6ADD-7023-4EA1-ADC9-8DCCE083386C
P2860
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
A recurrent mutation in GUCY2D ...... dystrophy in a Chinese family
@ast
A recurrent mutation in GUCY2D ...... dystrophy in a Chinese family
@en
type
label
A recurrent mutation in GUCY2D ...... dystrophy in a Chinese family
@ast
A recurrent mutation in GUCY2D ...... dystrophy in a Chinese family
@en
prefLabel
A recurrent mutation in GUCY2D ...... dystrophy in a Chinese family
@ast
A recurrent mutation in GUCY2D ...... dystrophy in a Chinese family
@en
P2093
P2860
P1433
P1476
A recurrent mutation in GUCY2D ...... dystrophy in a Chinese family
@en
P2093
Panfeng Wang
Qingjiong Zhang
Shiqiang Li
Xiangming Guo
Xiaoyun Jia
Xueshan Xiao
P2860
P304
P577
2011-12-15T00:00:00Z