Ilse J. de Wijs

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (2003)

Wissinger,Bernd, Van Driel,Marc A., Hoefsloot,Lies H., De Wijs,Ilse J., ...

Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (2003)

Wissinger, Bernd, Van Driel, Marc A., Hoefsloot, Lies H., De Wijs, Ilse J., ...

Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...