Linked Life Data

3262389

Source:http://linkedlifedata.com/resource/pubmed/id/3262389

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1988-11-15
pubmed:abstractText
Two men with factor IX (FIX)antigen-positive (CRM+) hemophilia B were selected for study because of their abnormal expression of an immunologically defined epitope previously localized to the EGF-like domains of the molecule. Exons IV and V (coding for the first and second EGF-like domains) of FIX were amplified 10(7) times from the patients' genomic DNA by using polymerase chain reaction (PCR) technology and sequenced. Both patients had identical mutations which resulted in the highly conserved Gly 60 residue being changed to Ser. PCR-amplified exon IV from six normal males had the previously defined canonic sequence. The correlation between the mutation and defective epitope expression in the two patients suggests that a change in the tertiary structure of the EGF-like domain is likely to cause the mild hemophilia B.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0006-4971
pubmed:author
pubmed:issnType
Print
pubmed:volume
72
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1407-11
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction.
pubmed:affiliation
Department of Microbiology and Immunology, University of North Carolina, Chapel Hill 27599.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.