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-meshheading:7891373-Chromosome Mapping,
pubmed-meshheading:7891373-Chromosomes, Human, Pair 9,
pubmed-meshheading:7891373-Female,
pubmed-meshheading:7891373-Genetic Heterogeneity,
pubmed-meshheading:7891373-Genetic Linkage,
pubmed-meshheading:7891373-Humans,
pubmed-meshheading:7891373-Male,
pubmed-meshheading:7891373-Pedigree,
pubmed-meshheading:7891373-Telangiectasia, Hereditary Hemorrhagic
|
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
|