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Audiologic Investigation of Autosomal Dominant Hereditary Sensory Hearing Loss in a Family of 507 Members in 6 Generations

✍ Scribed by X. K. BU; M. D. YING; H. B. GUO; Z. CAO


Book ID
119865795
Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
123 KB
Volume
630
Category
Article
ISSN
0890-6564

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Novel SPG6 mutation p.A100T in a Japanes
✍ Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 98 KB

## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.