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A Specific Feature of the Angiosperm Rab Escort Protein (REP) and Evolution of the REP/GDI Superfamily

✍ Scribed by Michal Hála; Marek Eliáš; Viktor Žárský


Book ID
116661995
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
607 KB
Volume
348
Category
Article
ISSN
0022-2836

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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