Associated Papers
A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
Ouyang P et al.
Molecular Medicine Reports, 2018
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Esposito G et al.
Human Mutation, 2011
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