Linked Life Data

16552475

Source:http://linkedlifedata.com/resource/pubmed/id/16552475

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-6-7
pubmed:abstractText
Complement C7 deficiency is associated with increased susceptibility to meningococcal infection. The genetic alterations of C7 deficiency are known to be sporadic and heterogeneous worldwide. We investigated molecular basis of C7 deficiency in two unrelated Korean families, in which the index cases suffered from meningococcal meningitis. Exon-specific PCR and direct sequencing of the C7 gene revealed two different mutations: c.1424G > A and c.281-1G > T. In family 1, index case and her brother revealed a homozygous mis-sense mutation (c.1424G > A), a novel mutation, which results in the change of cysteine to tyrosine (C475Y) in exon 10. Index case in family 2 was found to be a homozygote carrying point mutation at the 3' splice acceptor site of intron 3 (c.281-1G > T), which was previously reported in a Korean C7-deficient subject.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0271-9142
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
186-91
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.
pubmed:affiliation
Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, South Korea. kangheejung@hallym.ac.kr
pubmed:publicationType
Journal Article