Article
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
Human genetics - 1 Aug 2003
van den Hurk José A J M, van de Pol Dorien J R, Wissinger Bernd, van Driel Marc A, Hoefsloot Lies H, de Wijs Ilse J, van den Born L Ingeborgh, Heckenlively John R, Brunner Han G, Zrenner Eberhart, Ropers Hans-Hilger, Cremers Frans P M
Abstract excerpt
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is involved in the posttranslational lipid modification and subsequent membrane targeting of Rab proteins, small GTPases that play a key role in intracellular trafficking. We have searched for mutations of the CHM gene in...
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