Twelve novel myosin VIIA mutations in 34
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Andreas R. Janecke; Moritz Meins; Mojy Sadeghi; Kathrin Grundmann; Eckart Apfels
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Article
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1999
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John Wiley and Sons
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English
β 355 KB
Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least