| pubmed-article:9472666 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9472666 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:9472666 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:9472666 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
| pubmed-article:9472666 | lifeskim:mentions | umls-concept:C2676232 | lld:lifeskim |
| pubmed-article:9472666 | lifeskim:mentions | umls-concept:C0009523 | lld:lifeskim |
| pubmed-article:9472666 | lifeskim:mentions | umls-concept:C1522538 | lld:lifeskim |
| pubmed-article:9472666 | lifeskim:mentions | umls-concept:C0243067 | lld:lifeskim |
| pubmed-article:9472666 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:9472666 | pubmed:dateCreated | 1998-3-3 | lld:pubmed |
| pubmed-article:9472666 | pubmed:abstractText | Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father. | lld:pubmed |
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| pubmed-article:9472666 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9472666 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9472666 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9472666 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9472666 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:9472666 | pubmed:issn | 0009-9104 | lld:pubmed |
| pubmed-article:9472666 | pubmed:author | pubmed-author:VolanakisJ... | lld:pubmed |
| pubmed-article:9472666 | pubmed:author | pubmed-author:AtkinsonT PTP | lld:pubmed |
| pubmed-article:9472666 | pubmed:author | pubmed-author:ZhuZ BZB | lld:pubmed |
| pubmed-article:9472666 | pubmed:author | pubmed-author:Totemchokchya... | lld:pubmed |
| pubmed-article:9472666 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9472666 | pubmed:volume | 111 | lld:pubmed |
| pubmed-article:9472666 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9472666 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9472666 | pubmed:pagination | 91-6 | lld:pubmed |
| pubmed-article:9472666 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:9472666 | pubmed:meshHeading | pubmed-meshheading:9472666-... | lld:pubmed |
| pubmed-article:9472666 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9472666 | pubmed:articleTitle | Molecular defects leading to human complement component C6 deficiency in an African-American family. | lld:pubmed |
| pubmed-article:9472666 | pubmed:affiliation | Department of Medicine, University of Alabama at Birmingham, 35294-0006, USA. | lld:pubmed |
| pubmed-article:9472666 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9472666 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9472666 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:729 | entrezgene:pubmed | pubmed-article:9472666 | lld:entrezgene |
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