A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment

Laura Kytvuori; Samuli Hannula; Elina Mki Torkko; Martti Sorri; Kari Majamaa

doi:10.1016/j.heares.2017.09.013

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A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment

作者：Laura Kytvuori; Samuli Hannula; Elina Mki Torkko; Martti Sorri; Kari Majamaa

来源：Hearing Research, 2017, 355: 97-101.

DOI：10.1016/j.heares.2017.09.013

摘要

Abstract(#br)Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 ( WFS1 ) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly inherited low-frequency sensorineural HI. These two...