Article
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Investigative ophthalmology & visual science - 1 Jan 2006
Bowne Sara J, Sullivan Lori S, Mortimer Sarah E, Hedstrom Lizbeth, Zhu Jingya, Spellicy Catherine J, Gire Anisa I, Hughbanks-Wheaton Dianna, Birch David G, Lewis Richard A, Heckenlively John R, Daiger Stephen P
Abstract excerpt
PURPOSE: The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding. METHODS: The coding...
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