Article
Mutational analysis of patients with the diagnosis of choroideremia.
Human mutation - 1 Sept 2002
McTaggart Kerry E, Tran Mai, Mah Dean Y, Lai Sarah W, Nesslinger Nancy J, MacDonald Ian M
Abstract excerpt
All reported mutations in the choroideremia (CHM) gene result in the truncation or complete absence of Rab escort protein 1 (REP1). Molecular analysis was carried out on 57 families diagnosed with CHM. Confirmation of the clinical diagnosis is important as end-stage CHM may be clinically similar to the end stages of other retinal degenerative diseases such as RP. The primary means of confirming the diagnosis of...
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