Linked Life Data

14511309

Source:http://linkedlifedata.com/resource/pubmed/id/14511309

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-9-26
pubmed:abstractText
A 16-year-old Chinese female with prolonged bleeding after surgery has been studied. Routine clotting tests revealed a prolonged activated partial thromboplastin time (APTT; 126.6 s) and prothrombin time (PT; 42.8 s). The coagulation factors activities were normal except for factor V, which was only 0.3% of normal. DNA analysis of the FV gene revealed five nucleotide substitutions in exons, including two silent mutations (G327A and A5112G), one polymorphism (G1628A), a G1348T missense mutation and 4887 approximately 8delG. These abnormalities were associated with her FV deficiency, perhaps by causing a Gly392Cys substitution in FV amino acid sequence or by introducing a premature stop codon at amino acid position 1390. This is the third case in which FV deficiency is caused by compound heterozygous mutation of F5 gene, and is the first report from a Chinese family.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1351-8216
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
646-9
pubmed:dateRevised
2009-10-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene.
pubmed:affiliation
Division of Thrombosis and Hemostasis, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai, China.
pubmed:publicationType
Journal Article, Case Reports