Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1995-4-20
pubmed:abstractText
A locus causing hereditary haemorrhagic telangiectasia (HHT) has recently been mapped to 9q34 in four families and designated HHT1. In this paper, the results of a linkage study showing genetic heterogeneity in four families in whom HHT is segregating are reported. All the previously reported 9q34 linked families contain at least one affected member with a symptomatic pulmonary arteriovenous malformation. We postulate that clinical heterogeneity may also be a feature of HHT with a significantly higher predisposition to symptomatic PAVMs associated with the HHT1 linked families.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
31
pubmed:geneSymbol
HHT
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
925-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
pubmed:affiliation
Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't