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References

These sources were used to develop the Genetics Home Reference gene summary on the CHM gene.

Entrez Gene
Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C. New type of mutations in three spanish families with choroideremia. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1315-21. doi: 10.1167/iovs.07-1169. PubMed citation
MacDonald IM, Sereda C, McTaggart K, Mah D. Choroideremia gene testing. Expert Rev Mol Diagn. 2004 Jul;4(4):478-84. Review. PubMed citation
McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002 Sep;20(3):189-96. PubMed citation
OMIM: CHM GENE
Preising M, Ayuso C. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet. 2004 Jun;25(2):101-10. Review. PubMed citation
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet. 2003 Aug;113(3):268-75. Epub 2003 Jun 25. PubMed citation
Yip SP, Cheung TS, Chu MY, Cheung SC, Leung KW, Tsang KP, Lam ST, To CH. Novel truncating mutations of the CHM gene in Chinese patients with choroideremia. Mol Vis. 2007 Nov 27;13:2183-93. PubMed citation

Reviewed: July 2008

Published: May 20, 2013