Funder
Korea Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea
Soonchunhyang University Research Fund
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet. 2001;10(22):2501–8.
2. Van Camp G, Kunst H, Flothmann K, McGuirt W, Wauters J, Marres H, et al. A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. J Med Genet. 1999;36(7):532–6.
3. Bodoor K, Batiha O, Abu-Awad A, Al-Sarihin K, Ziad H, Jarun Y, et al. Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. Meta Gene. 2016;9:219–24.
4. Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Clin Genet. 2011;79(2):103–17.
5. Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, et al. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A. 2011;155A(6):1298–313.
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