Linked Life Data

15218514

Source:http://linkedlifedata.com/resource/pubmed/id/15218514

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2005-1-5
pubmed:abstractText
Age-related macular degeneration (AMD) is considered a complex genetic disease, although the genetic influences are not yet fully understood. Genetic analysis is hampered by the late onset of disease and the difficulty in obtaining multigenerational families. To investigate this problem further we studied our population of early onset drusen cases. The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD. We wished to ascertain the involvement of the EFEMP1 gene in our population of sporadic and familial subjects presenting with early onset drusen and their affected relatives.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0950-222X
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
11-5
pubmed:dateRevised
2009-11-3
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Analysis of the EFEMP1 gene in individuals and families with early onset drusen.
pubmed:affiliation
Centre for Eye Research Australia, University of Melbourne, 3002 Melbourne, Australia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't