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Journal article

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.

Abstract:

Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in hippocampal neurogenesis, we examined two kindreds with the same R373C PROM1 missense mutation using our established paradigm to study brain structure and function. As the protein encoded by PROM1, known as CD133, is used to identify stem/progenitor cells that can be found in peripheral blood and reflect endothelial reparatory...

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Publisher copy:
10.1038/ejhg.2010.147

Authors


Arrigoni, FI More by this author
Matarin, M More by this author
Thompson, PJ More by this author
Michaelides, M More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
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Journal:
European journal of human genetics : EJHG
Volume:
19
Issue:
2
Pages:
131-137
Publication date:
2011-02-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:3d041763-7175-43ad-bd2e-3cbde6087600
Source identifiers:
374557
Local pid:
pubs:374557

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