Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1994-11-9
pubmed:abstractText
Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular degeneration developing in the third or fourth decade. Patients lose central vision from subretinal neovascularization and atrophy of the choriocapillaris, pigment epithelium and retina. SFD shares some striking clinical features with age-related macular degeneration (AMD), the most common cause of blindness in western countries thereby providing a valuable genetic model for AMD. To map the SFD locus, we performed linkage analysis in a single large SFD family. After exclusion of approximately 65% of the autosomal genome, we found significant linkage to several markers from chromosome 22. Recombinant chromosomes sublocalize the SFD gene to 22q13-qter between D22S275 and D22S274.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1061-4036
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:geneSymbol
SFD
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
158-61
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.
pubmed:affiliation
Institut für Humangenetik, Biozentrum, Würzburg, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't