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A p.C343S missense mutation in PJVK causes progressive hearing loss

✍ Scribed by Ghulam Mujtaba; Ihtisham Bukhari; Amara Fatima; Sadaf Naz


Book ID
116508921
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
358 KB
Volume
504
Category
Article
ISSN
0378-1119

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## Abstract Nonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect the EyaHR domain of the β€˜Eyes absent 4’ (EYA4) protein were identified. We report on the clinical and genetic analyses of an Austr