相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Molecular and in sillico analyses of the full-length isoform of usherlin identify new pathogenic alleles in usher type II patients
David Baux et al.
HUMAN MUTATION (2007)
A novel gene for Usher syndrome type 2:: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
Inga Ebermann et al.
HUMAN GENETICS (2007)
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
Xiaoqing Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The changing face of Usher syndrome: Clinical implications
Mazal Cohen et al.
INTERNATIONAL JOURNAL OF AUDIOLOGY (2007)
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
Inga Ebermann et al.
GENOME BIOLOGY (2007)
Usher syndrome:: molecular links of pathogenesis, proteins and pathways
Hannie Kremer et al.
HUMAN MOLECULAR GENETICS (2006)
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
A Adato et al.
HUMAN MOLECULAR GENETICS (2005)
Population history and its impact on medical genetics in Quebec
AM Laberge et al.
CLINICAL GENETICS (2005)
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
E van Wijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
MD Weston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation
B Dreyer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Identification of novel USH2A mutations:: implications for the structure of USH2A protein
B Dreyer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIa
MD Weston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
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