Molecular basis of choroideremia (CHM):
✍
JAJM van den Hurk; M Schwartz; H van Bokhoven; TJR van de Pol; L Bogerd; AJLG Pi
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 274 KB
## Communicated by Albert de la Chapelle Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have transloca