Autosomal Dominant Drusen Confirmed by Molecular Genetics
نویسندگان
چکیده
منابع مشابه
Molecular genetic heterogeneity in autosomal dominant drusen.
OBJECTIVE Autosomal dominant drusen is of particular interest because of its phenotypic similarity to age related macular degeneration. Currently, mutation R345W of EFEMP1 and, in a single pedigree, linkage to chromosome 6q14 have been causally related to the disease. We proposed to investigate and quantify the roles of EFEMP1 and the 6q14 locus in dominant drusen patients from the UK and USA. ...
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ژورنال
عنوان ژورنال: Journal of the Korean Ophthalmological Society
سال: 2021
ISSN: 0378-6471,2092-9374
DOI: 10.3341/jkos.2021.62.1.120