Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.

Abstract

PURPOSE Choroideremia (CHM) is an X-linked retinal degenerative disorder caused by mutations in the CHM gene. The mutations result in malfunction of the Rab escort protein 1 (REP-1). In this study, mutational analysis of the CHM gene was performed on five Chinese families clinically diagnosed with CHM. METHODS Denaturing high performance liquid… (More)

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