Single-base substitutions in the CHM promoter as a cause of choroideremia

Radziwon, A; Arno, G; Wheaton, DK; McDonagh, EM; Baple, EL; Webb-Jones, K; Birch, DG; Webster, AR; MacDonald, IM

Radziwon, A (reprint author), Univ Alberta, Dept Ophthalmol & Visual Sci, 7-030 Katz Bldg, Edmonton, AB T6G 2E1, Canada.

HUMAN MUTATION, 2017; 38 (6): 704

Abstract

Although over 150 unique mutations affecting the coding sequence of CHM have been identified in patients with the X-linked chorioretinal disease choro......

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