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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

✍ Scribed by Weil, Dominique; Küssel, Polonca; Blanchard, Stéphane; Lévy, Gallia; Levi-Acobas, Fabienne; Drira, Mohamed; Ayadi, Hammadi; Petit, Christine

Book ID: 109916305
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 361 KB
Volume: 16
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0697-191

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Myosin VIIa, the product of the Usher 1B

Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells

✍ Liu, Xinran ;Vansant, Gordon ;Udovichenko, Igor P. ;Wolfrum, Uwe ;Williams, Davi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 694 KB

Usher syndrome is the most common form of combined deafness and blindness. The gene that is defective in Usher syndrome 1B (USH1B) encodes for an unconventional myosin, myosin VIIa. To understand the cellular function of myosin VIIa and why defects in it lead to USH1B, it is essential to determine t