about
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentThe cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.Usher syndrome type III can mimic other types of Usher syndrome.Linkage analysis in Usher syndrome type I (USH1) families from SpainCone responses in Usher syndrome types 1 and 2 by microvolt electroretinographyAAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type IThe changing face of Usher syndrome: clinical implications.Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.Hearing loss in Usher syndrome type II is nonprogressive.Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
P2860
Q24533348-57E8FFED-E8EE-4757-8BE3-D517A955FE86Q24622165-347D6FE4-3B62-42CE-B702-17FBF4006F1EQ24646440-D28DA12D-63DB-4F81-9B49-9014B785CDAFQ27312044-A1ECCC81-7413-4778-8253-891E531227E4Q30423944-6E3AB87E-85F9-464B-B5AB-87D916125E18Q30955016-FCB2E2A5-ABD4-4A60-8C7E-B58B69816255Q33680697-83AE80D7-00D1-4080-B9A1-FB7A698B8C90Q34882829-58A4F4DA-CF59-4C5A-A378-C8475F1DF291Q35924907-9C241726-9718-482F-B39C-01894CF2D209Q36015809-8CD134D0-2F8A-4BF6-A754-BED1795362D8Q36761749-71D089B2-3F84-4E8C-86B1-0E095DF04312Q42553344-65A9CD89-D8B7-4652-A866-4186E5B6319FQ48420867-2083F46B-D08F-48AC-8709-6AB4CCF85A09Q50352959-0435EBFE-A6D6-4378-B7CB-921D79E87122Q50471712-49C19DFB-7094-48BE-8B75-37681B87A192
P2860
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
The ophthalmological course of Usher syndrome type III.
@ast
The ophthalmological course of Usher syndrome type III.
@en
The ophthalmological course of Usher syndrome type III.
@nl
type
label
The ophthalmological course of Usher syndrome type III.
@ast
The ophthalmological course of Usher syndrome type III.
@en
The ophthalmological course of Usher syndrome type III.
@nl
prefLabel
The ophthalmological course of Usher syndrome type III.
@ast
The ophthalmological course of Usher syndrome type III.
@en
The ophthalmological course of Usher syndrome type III.
@nl
P2093
P356
P1476
The ophthalmological course of Usher syndrome type III.
@en
P2093
Laippala P
Mäntyjärvi M
Pakarinen L
Tuppurainen K
P2888
P304
P356
10.1007/BF00130927
P577
1995-01-01T00:00:00Z
P6179
1053322225