Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: An Asp226Asn mutation in the IMPDH1 gene

Petra Kozma, Dianna K. Hughbanks-Wheaton, Kirsten G. Locke, Garry E. Fish, Anisa I. Gire, Catherine J. Spellicy, Lori S. Sullivan, Sara J. Bowne, Stephen P. Daiger, David G. Birch

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Medicine & Life Sciences