Article
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
Human molecular genetics - 1 Jul 1994
van Bokhoven H, Schwartz M, Andréasson S, van den Hurk J A, Bogerd L, Jay M, Rüther K, Jay B, Pawlowitzki I H, Sankila E M
Abstract excerpt
The recent isolation of the complete open reading frame of the choroideremia (CHM) gene and the characterization of the exon-intron boundaries has paved the way to mutation detection in patients with classical choroideremia. We have performed mutation screening in patients from 15 Danish and Swedish families by using Southern blot hybridization and the polymerase chain reaction single-strand conformation...
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