Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

The RPGR (retinitis pigmentosa GTPase regulator) gene for RP3, the most frequent genetic subtype of X-linked retinitis pigmentosa (XLRP), has been shown to be mutated in 10%-15% of European XLRP patients. We have examined the RPGR gene for mutations in a cohort of 80 affected males from apparently u...

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書誌詳細
主要な著者: Buraczynska, M, Wu, W, Fujita, R, Buraczynska, K, Phelps, E, Andréasson, S, Bennett, J, Birch, D G, Fishman, G A, Hoffman, D R, Inana, G, Jacobson, S G, Musarella, M A, Sieving, P A, Swaroop, A
フォーマット: Artigo
言語:Inglês
出版事項: 1997
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716085/
https://ncbi.nlm.nih.gov/pubmed/9399904
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