| pubmed-article:1516231 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1516231 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:1516231 | lifeskim:mentions | umls-concept:C0450429 | lld:lifeskim |
| pubmed-article:1516231 | lifeskim:mentions | umls-concept:C0205107 | lld:lifeskim |
| pubmed-article:1516231 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:1516231 | lifeskim:mentions | umls-concept:C0033452 | lld:lifeskim |
| pubmed-article:1516231 | lifeskim:mentions | umls-concept:C0796345 | lld:lifeskim |
| pubmed-article:1516231 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:1516231 | pubmed:dateCreated | 1992-10-8 | lld:pubmed |
| pubmed-article:1516231 | pubmed:abstractText | Properdin is a component of the alternative activation pathway of the complement system. Deficiency or dysfunction of the protein is inherited in an X-linked recessive manner. Affected males have an increased risk of developing meningococcal disease. Six multi-generation families with different types of properdin deficiency were analyzed using microsatellite and other polymorphisms on the X chromosome. Based on multipoint data, it was found that the disease gene maps close to DXS255 (Zmax = 13.3 at theta max = 0.00) and DXS426 (Zmax = 12.9 at theta max = 0.00) on the Xp-arm near the centromere. There was no indication of genetic heterogeneity among the six families analyzed. Thus it is now possible to perform accurate DNA-based determination of the inheritance of the mutation in affected families. | lld:pubmed |
| pubmed-article:1516231 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1516231 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1516231 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1516231 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1516231 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1516231 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:1516231 | pubmed:issn | 0009-9163 | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:SjöholmA GAG | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:StarkF RFR | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:PigaGG | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:SchaadU BUB | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:SundvallMM | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:GoonewardenaP... | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:WadeliusCC | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:TijssenC CCC | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:KuijperE JEJ | lld:pubmed |
| pubmed-article:1516231 | pubmed:author | pubmed-author:JanszAA | lld:pubmed |
| pubmed-article:1516231 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1516231 | pubmed:volume | 42 | lld:pubmed |
| pubmed-article:1516231 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1516231 | pubmed:authorsComplete | N | lld:pubmed |
| pubmed-article:1516231 | pubmed:pagination | 8-12 | lld:pubmed |
| pubmed-article:1516231 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:meshHeading | pubmed-meshheading:1516231-... | lld:pubmed |
| pubmed-article:1516231 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1516231 | pubmed:articleTitle | Linkage analysis in properdin deficiency families: refined location in proximal Xp. | lld:pubmed |
| pubmed-article:1516231 | pubmed:affiliation | Department of Clinical Genetics, University Hospital, Uppsala, Sweden. | lld:pubmed |
| pubmed-article:1516231 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1516231 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1516231 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1516231 | lld:pubmed |
