A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
作者： A. Meindl , K. Dry , K. Herrmann , E. Manson , A. Ciccodicola
DOI: 10.1038/NG0596-35
关键词: Gene 、 Missense mutation 、 Retinitis pigmentosa 、 Deletion mapping 、 Molecular biology 、 Biology 、 Population 、 Tandem repeat 、 Retinitis pigmentosa GTPase regulator 、 Genetics 、 Positional cloning
摘要: … N-terminal half a tandem repeat structure highly similar to RCC1 (regulator of chromosome … Alignment of tandem RCC1 repeats. The predicted amino acid sequence for the conserved …
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