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2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4.
Ann Hum Genet. 2000 May;64(Pt 3):189-96. doi: 10.1046/j.1469-1809.2000.6430189.x.
Ann Hum Genet. 2000.
PMID: 11409409
Free PMC article.
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G.
Cryns K, et al.
Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9.
Hum Genet. 2002.
PMID: 12073007
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Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G.
Van Laer L, et al.
Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503.
Nat Genet. 1998.
PMID: 9771715
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