Whirlin and PDZ Domain-containing 7 (PDZD7) Proteins Are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference46 articles.
1. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome;Ebermann;J. Clin. Invest,2010
2. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss;Ebermann;Hum. Genet,2007
3. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa;Eudy;Science,1998
4. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II;Weston;Am. J. Hum. Genet,2004
5. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment;Schneider;Hum. Mol. Genet,2009
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