| Literature DB >> 9067750 |
J A van den Hurk1, M Schwartz, H van Bokhoven, T J van de Pol, L Bogerd, A J Pinckers, E M Bleeker-Wagemakers, I H Pawlowitzki, K Rüther, H H Ropers, F P Cremers.
Abstract
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 translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease.Entities:
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Year: 1997 PMID： 9067750 DOI： 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878