Open AccessA Novel Haplotype with the R345W Mutation in theEFEMP1Gene Associated with Autosomal Dominant Drusen in a Japanese Family
Author(s) -
Tomokazu Takeuchi,
Takaaki Hayashi,
Matthew Bedell,
Kang Zhang,
Hisashi Yamada,
Hiroshi Tsuneoka
Publication year - 2010
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.09-4497
Subject(s) - proband , haplotype , drusen , genetics , ophthalmology , medicine , missense mutation , family history , fundus (uterus) , mutation , macular degeneration , biology , gene , allele
To describe ophthalmic and molecular genetic findings in a family of Japanese patients with Malattia leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD), also known as autosomal dominant drusen.
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