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 Swed...
Topics
- Adaptor Proteins, Signal Transducing
- Alkyl and Aryl Transferases
- Base Sequence
- Blotting, Southern
- Carrier Proteins
- Choroideremia
- DNA Mutational Analysis
- Denmark
- Exons
- Female
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Sequence Deletion
- Sequence Tagged Sites