ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype

Publisher DOI
PubMed ID
20335603
Description
To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
Date of Publication
2010
Publication Type
Article
Language(s)
en
Contributor(s)
Poloschek, Charlotte M
Bach, Michael
Lagreze, W A
Glaus, Esther
Berger, Wolfgang
Neidhardt, John
Additional Credits
Series
Investigative ophthalmology & visual science
Publisher
Association for Research in Vision and Ophthalmology
ISSN
0146-0404
Access(Rights)
metadata.only
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