A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33972/fullpdf
Reference10 articles.
1. Deafness genes in Israel: Implications for diagnostics in the clinic;Brownstein;Pediatr Res,2009
2. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia;Edvardson;Am J Hum Genet,2007
3. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation;Edvardson;Am J Hum Genet,2010
4. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans;Grillet;Am J Hum Genet,2009
5. Function and expression pattern of nonsyndromic deafness genes;Hilgert;Curr Mol Med,2009
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3. Homozygous LOXHD1 Nonsense Mutation (c.1787G>A; p.W596X) is Associated with Hearing Loss in an Iranian Family: A Case Report;International Journal of Biomedicine;2022-03-10
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