Article
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
Human mutation - 1 Jan 1997
van den Hurk J A, Schwartz M, van Bokhoven H, van de Pol T J, Bogerd L, Pinckers A J, Bleeker-Wagemakers E M, Pawlowitzki I H, Rüther K, Ropers H H, Cremers F P
Abstract excerpt
Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site...
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