Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.
about
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesionExome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractThe Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family.A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
P2860
Q28115831-6EF26510-DCAB-4A69-AD13-FD27E2F15FF5Q33812331-D826AF44-A07A-43C8-BB82-E44059F25CE3Q33916470-6D70F667-B411-4ACD-A9BF-4F11F1EDC7D8Q34291121-D510CBAE-C514-47FC-9AF3-CBC3EC7BA46DQ35213915-1F59DC92-4559-4151-B254-F7A7ED47FD8FQ35577778-B19E1EF6-8B35-4535-B363-0A1AB2453056Q37326919-D0ECB3A1-A0C1-4715-9E85-3E050842201AQ37473942-2D266C58-5978-44F7-90CB-9CF4763F262DQ37563474-3ADB1749-3D22-479E-8F82-1B619ADCDAC5Q39370800-92002AC4-43EE-4F45-ADCA-107C61D2FB18Q41245001-EC6F7D7A-1729-4CDA-AD1F-57E2A7449593Q52562810-6C987FEA-1A55-4955-9E88-CFF16C84D9B5
P2860
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
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
name
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@ast
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@en
type
label
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@ast
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@en
prefLabel
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@ast
Cerulean cataract mapped to 12 ...... tiation codon mutation in MIP.
@en
P2093
P2860
P1433
P1476
Cerulean cataract mapped to 12 ...... itiation codon mutation in MIP
@en
P2093
Panfeng Wang
Qingjiong Zhang
Shiqiang Li
Wenmin Sun
Xiangming Guo
Xiaoyun Jia
Xueshan Xiao
P2860
P304
P577
2011-07-26T00:00:00Z