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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2010-2-26
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pubmed:abstractText |
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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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
1552-5783
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1643-50
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pubmed:dateRevised |
2010-9-2
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pubmed:meshHeading |
pubmed-meshheading:19850834-Adult,
pubmed-meshheading:19850834-Aged,
pubmed-meshheading:19850834-Asian Continental Ancestry Group,
pubmed-meshheading:19850834-DNA Mutational Analysis,
pubmed-meshheading:19850834-Electrooculography,
pubmed-meshheading:19850834-Electroretinography,
pubmed-meshheading:19850834-Extracellular Matrix Proteins,
pubmed-meshheading:19850834-Female,
pubmed-meshheading:19850834-Fluorescein Angiography,
pubmed-meshheading:19850834-Genes, Dominant,
pubmed-meshheading:19850834-Haplotypes,
pubmed-meshheading:19850834-Humans,
pubmed-meshheading:19850834-Mutation, Missense,
pubmed-meshheading:19850834-Pedigree,
pubmed-meshheading:19850834-Retinal Drusen,
pubmed-meshheading:19850834-Visual Fields
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pubmed:year |
2010
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pubmed:articleTitle |
A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.
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pubmed:affiliation |
Department of Ophthalmology, he Jikei University School of Medicine, Tokyo, Japan. taka@jikei.ac.jp
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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