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Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

✍ Scribed by J.M Cuevas; C Espinós; J.M Millán; F Sánchez; M.J Trujillo; B Garcı́a-Sandoval; C Ayuso; C Nájera; M Beneyto


Book ID
115638278
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
133 KB
Volume
12
Category
Article
ISSN
0890-8508

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Twelve novel myosin VIIA mutations in 34
✍ Andreas R. Janecke; Moritz Meins; Mojy Sadeghi; Kathrin Grundmann; Eckart Apfels 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

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