Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8837
pubmed:dateCreated
1993-2-4
pubmed:abstractText
Familial erythrocytosis is heterogeneous with diverse causes. Using a highly informative, simple sequence repeat polymorphism in the 5' region of the erythropoietin receptor gene (EPOR), we did linkage analysis in a large family whose clinical and genealogical features were known. There were no recombinations between the disease phenotype and the polymorphism, the logarithm of odds score for linkage at zero recombination being 6.37. This highly significant linkage indicates that a mutation in EPOR is most probably responsible for the disease phenotype in this family.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
9
pubmed:volume
341
pubmed:geneSymbol
EPOR GENE
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
82-4
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Familial erythrocytosis genetically linked to erythropoietin receptor gene.
pubmed:affiliation
Department of Medical Genetics, University of Helsinki, Finland.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't