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Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

✍ Scribed by JAJM van den Hurk; M Schwartz; H van Bokhoven; TJR van de Pol; L Bogerd; AJLG Pinckers; EM Bleeker-Wagemakers; IH Pawlowitzki; K Rüther; H-H Ropers; FPM Cremers

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
274 KB
Volume
9
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splicesite mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease.

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