The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00058.x/fullpdf
Reference15 articles.
1. Localization of two genes for Usher syndrome type I to chromosome 11;Smith;Genomics,1992
2. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene;Bitner-Glindzicz;Nat Genet,2000
3. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C;Verpy;Nat Genet,2000
4. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene;Jain;Genomics,1998
5. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC;Ahmed;Hum Genet,2002
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1. Novel heterozygous USH1C mutation impacts hair cell mechanotransduction and causes progressive hearing loss;Science Bulletin;2024-01
2. A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss;Annals of Laboratory Medicine;2020-05-01
3. A mutation in IFT43 causes non-syndromic recessive retinal degeneration;Human Molecular Genetics;2017-09-18
4. Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology;Molecular Genetics and Genomics;2014-09-25
5. Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE;PLoS ONE;2014-01-08
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