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Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment

✍ Scribed by Jürgen Kunz; Ben Marquez-Klaka; Steffen Uebe; Anja Volz-Peters; Roswitha Berger; Peter Rausch

Book ID: 114070708
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 80 KB
Volume: 525
Category: Article
ISSN: 0027-5107
DOI: 10.1016/s0027-5107(02)00265-8

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## Abstract ## Objectives/Hypothesis: To describe the audiological profiles in a Japanese family with autosomal dominant hereditary sensorineural hearing loss (SNHL) and to identify the causative gene. ## Study Design: A family study at an academic tertiary referral center. ## Methods: A famil