A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 3, 2010, Pages 1643-1650

  Takeuchi, Tomokazu ^a   Hayashi, Takaaki ^a   Bedell, Matthew ^b   Zhang, Kang ^b   Yamada, Hisashi ^a   Tsuneoka, Hiroshi ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLURRED VISION; CASE REPORT; DRUSEN; EFEMP1 GENE; ELECTRODIAGNOSIS; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; JAPANESE; OPHTHALMOSCOPY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; VISUAL FIELD; ASIAN; DOMINANT GENE; ELECTROOCULOGRAPHY; FLUORESCENCE ANGIOGRAPHY; GENETICS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

EFEMP1 PROTEIN, HUMAN; SCLEROPROTEIN;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HAPLOTYPES; HUMANS; MUTATION, MISSENSE; PEDIGREE; RETINAL DRUSEN; VISUAL FIELDS;

EID: 77949893847     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4497     Document Type: Article

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