| pubmed-article:7535801 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7535801 | lifeskim:mentions | umls-concept:C0205177 | lld:lifeskim |
| pubmed-article:7535801 | lifeskim:mentions | umls-concept:C1853126 | lld:lifeskim |
| pubmed-article:7535801 | lifeskim:mentions | umls-concept:C2676232 | lld:lifeskim |
| pubmed-article:7535801 | lifeskim:mentions | umls-concept:C0009523 | lld:lifeskim |
| pubmed-article:7535801 | lifeskim:mentions | umls-concept:C0728939 | lld:lifeskim |
| pubmed-article:7535801 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:7535801 | pubmed:dateCreated | 1995-5-9 | lld:pubmed |
| pubmed-article:7535801 | pubmed:abstractText | Individuals with subtotal complement C6 deficiency possess a C6 molecule that is 14% shorter than normal C6 and present in low but detectable concentrations (1-2% of the normal mean). We now show that this dysmorphic C6 is bactericidally active and lacks an epitope that was mapped to the most carboxy-terminal part of C6 using C6 cDNA fragments expressed as fusion proteins in the pUEX expression system. We thus predicted that the abnormal C6 molecule might be carboxy-terminally truncated and sought a mutation in an area approximately 14% from the carboxy-terminal end of the coding sequence. By sequencing PCR-amplified products from this region, we found, in three individuals from two families, a mutation that might plausibly be responsible for the defect. All three have an abnormal 5' splice donor site of intron 15, which would probably prevent splicing. An in-frame stop codon is found 17 codons downstream from the intron boundary, which would lead to a truncated polypeptide 13.5% smaller than normal C6. This result was unexpected, as earlier studies mapped the C5b binding site, or a putative enzymatic region, to this part of C6. Interestingly, all three subjects were probably heterozygous for both subtotal C6 and complete C6 deficiency. | lld:pubmed |
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| pubmed-article:7535801 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7535801 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7535801 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:7535801 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7535801 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:7535801 | pubmed:issn | 0021-9738 | lld:pubmed |
| pubmed-article:7535801 | pubmed:author | pubmed-author:OrrenAA | lld:pubmed |
| pubmed-article:7535801 | pubmed:author | pubmed-author:LachmannP JPJ | lld:pubmed |
| pubmed-article:7535801 | pubmed:author | pubmed-author:HobartM JMJ | lld:pubmed |
| pubmed-article:7535801 | pubmed:author | pubmed-author:WürznerRR | lld:pubmed |
| pubmed-article:7535801 | pubmed:author | pubmed-author:PotterP CPC | lld:pubmed |
| pubmed-article:7535801 | pubmed:author | pubmed-author:FernieB ABA | lld:pubmed |
| pubmed-article:7535801 | pubmed:author | pubmed-author:MewarDD | lld:pubmed |
| pubmed-article:7535801 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7535801 | pubmed:volume | 95 | lld:pubmed |
| pubmed-article:7535801 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7535801 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7535801 | pubmed:pagination | 1877-83 | lld:pubmed |
| pubmed-article:7535801 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:7535801 | pubmed:meshHeading | pubmed-meshheading:7535801-... | lld:pubmed |
| pubmed-article:7535801 | pubmed:year | 1995 | lld:pubmed |
| pubmed-article:7535801 | pubmed:articleTitle | Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6. | lld:pubmed |
| pubmed-article:7535801 | pubmed:affiliation | Molecular Immunopathology Unit, Medical Research Council Centre, Cambridge, United Kingdom. | lld:pubmed |
| pubmed-article:7535801 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7535801 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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