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A frameshift mutation in SANS results in atypical Usher syndrome

✍ Scribed by R Bashir; A Fatima; S Naz


Book ID
110889103
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
660 KB
Volume
78
Category
Article
ISSN
0009-9163

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Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis