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CHM 1
- ... HUMAN REP-1 REP-1, Rab escort protein 1 TCD Tests of CHM PubMed CHM RAB ESCORT PROTEIN; CHM NCBI Gene ...
- ... organelles within cells (intracellular trafficking). Mutations in the CHM gene lead to an absence of REP-1 protein or the production of a REP-1 ... REP-1 in this tissue. Loss of REP-1 function and subsequent misplacement of Rab proteins within the cells of the retina causes the ... Choroideremia is inherited in an X-linked recessive ...
- Choroideremia (Foundation Fighting Blindness)Eye Diseases/Specifics ... Eye Diseases ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...