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A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family

โœ Scribed by Mei-Chen Wu; Jer-Yuarn Wu; Cheng-Chun Lee; Chang-Hai Tsai; Fuu-Jen Tsai

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
10 KB
Volume
17
Category
Article
ISSN
1059-7794

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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