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A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa

โœ Scribed by Sandeep Grover; Gerald A. Fishman; Edwin M. Stone


Book ID
116803079
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
311 KB
Volume
111
Category
Article
ISSN
0161-6420

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Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of