Linked Life Data

17558848

Source:http://linkedlifedata.com/resource/pubmed/id/17558848

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-6-11
pubmed:abstractText
Amyloidosis is a term to describe extracellular deposition of insoluble beta-fibrillar proteins. Here we describe a patient who was confirmed to have amyloidosis after right heart biopsy and was found to have DNA change 114T > A (codon change D18E). Ophthalmic examination showed increasing vitreous sheet-like opacities in the left eye and she subsequently underwent vitrectomy. The vitrectomy specimen was confirmed to have amyloid involvement. To our knowledge this is the first report of vitreous involvement of a patient with the Asp18Glu mutation of the transthyretin (TTR) gene with DNA change 114T > A.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1381-6810
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
73-5
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid.
pubmed:affiliation
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA.
pubmed:publicationType
Journal Article, Case Reports