An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
about
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesionA novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractA 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.MALDI Imaging Mass Spectrometry Spatially Maps Age-Related Deamidation and Truncation of Human Lens Aquaporin-0.Aquaporins in the eye: expression, function, and roles in ocular diseaseA 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.Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
P2860
Q28115831-E2214BBF-5240-473D-A918-7465056490C4Q33916470-F3656229-D542-4601-A7C6-B18595756E03Q35213915-E8C6B88F-1834-4C26-BE5E-F70C8099EAA4Q35577778-176F8790-52F9-46B2-A7B1-30A3C029A9D2Q35843422-07289DB2-6B51-482B-8BF1-BF02DB42060FQ36067707-060FC1DD-DF68-49D6-AD2B-B31B9ABCC5E5Q37326919-A131178E-B0BD-4B75-B8AF-5285E2BFDE64Q37473942-13EF49B2-5A40-4C0C-9EED-7084778DBB5AQ37563474-4B1D306F-0C73-4A28-9100-702C370BDD42Q39370800-D0EF97D2-1350-4053-A4E3-6D8CC84FE3B9Q41245001-02B70C8A-A2CC-41A6-ADE0-F03EF23CE8B6Q52562810-FACAC502-40EC-4CA3-BEF6-4E64CEDAA186Q55318082-0F24E6D5-C03F-44A1-9BA0-1A853A3C42B7
P2860
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
An MIP/AQP0 mutation with impa ...... congenital lamellar cataract.
@ast
An MIP/AQP0 mutation with impa ...... congenital lamellar cataract.
@en
type
label
An MIP/AQP0 mutation with impa ...... congenital lamellar cataract.
@ast
An MIP/AQP0 mutation with impa ...... congenital lamellar cataract.
@en
prefLabel
An MIP/AQP0 mutation with impa ...... congenital lamellar cataract.
@ast
An MIP/AQP0 mutation with impa ...... congenital lamellar cataract.
@en
P2093
P2860
P1476
An MIP/AQP0 mutation with impa ...... t congenital lamellar cataract
@en
P2093
G Senthil Kumar
John W Kyle
K Vasantha
Peter J Minogue
S T Santhiya
Viviana M Berthoud
P2860
P304
P356
10.1016/J.EXER.2012.10.010
P577
2012-10-29T00:00:00Z