Spectrum and Frequency of Mutations in IMPDH1 Associated with Autosomal Dominant Retinitis Pigmentosa and Leber Congenital Amaurosis

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,...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2006
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2581444/
https://ncbi.nlm.nih.gov/pubmed/16384941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.05-0868
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