Linked Life Data

18180623

Source:http://linkedlifedata.com/resource/pubmed/id/18180623

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-1-8
pubmed:abstractText
A 26-year-old man who had a history of recurrent spontaneous nasal bleeding was admitted to our hospital with uncontrolled traumatic subdural hemorrhage. His plasma factor VII activity was less than 10% of normal. DNA sequence analysis revealed that the proband had a compound heterozygote for a novel nonsense mutation (F7 NM_000131.2 c.345C > A; p.Cys115X) in exon 4 encoding the EGF1 domain and a known missense mutation (F7 NM_000131.2 c.1027G > A; p.Gly343Ser) in exon 8 encoding the serine protease domain of F7. The same F7 Gly343Ser mutation was present in the asymptomatic father, who exhibited a modest reduction in the plasma level of factor VII activity (48%).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0957-5235
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
92-4
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation.
pubmed:affiliation
Department of Laboratory Medicine, Pusan National University, School of Medicine, Seo-Gu, Busan, Korea.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't