The Usher syndromes are autosomal recessive hereditary disorders characterized by hearing impairment and progressive visual loss due to Retinitis Pigmentosa (RP). Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long ar
✦ LIBER ✦
Identification of novel USH2A mutations: implications for the structure of USH2A protein
✍ Scribed by Dreyer, Bo; Tranebjærg, Lisbeth; Rosenberg, Thomas; Weston, Michael D; Kimberling, William J; Nilssen, Øivind
- Book ID
- 110024985
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 623 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1018-4813
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## Communicated by Andreas Gal Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common su