| pubmed-article:3502688 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3502688 | lifeskim:mentions | umls-concept:C0221026 | lld:lifeskim |
| pubmed-article:3502688 | lifeskim:mentions | umls-concept:C0242960 | lld:lifeskim |
| pubmed-article:3502688 | lifeskim:mentions | umls-concept:C0079429 | lld:lifeskim |
| pubmed-article:3502688 | lifeskim:mentions | umls-concept:C1283195 | lld:lifeskim |
| pubmed-article:3502688 | lifeskim:mentions | umls-concept:C0332120 | lld:lifeskim |
| pubmed-article:3502688 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:3502688 | pubmed:dateCreated | 1986-10-2 | lld:pubmed |
| pubmed-article:3502688 | pubmed:abstractText | X-linked agammaglobulinemia (XLA) is a severe humoral immunodeficiency disease of man. The inheritance of the disease is X-linked recessive. Female carriers can not be distinguished by immunologic assays. We investigated the localization of the disease gene on the X chromosome, utilizing nine polymorphic X chromosomal markers. In a single eight generation pedigree we found close linkage of the disease gene to the restriction fragment length polymorphism (RFLP) recognized by the DNA probe p19-2; the maximum lod score was 3.30 at a recombination fraction of 0.06. Addition of the lod scores for p19-2 obtained from seven other XLA pedigrees did not show the expected increase of the total score. This suggested genetic heterogeneity. We used the p19-2 marker as a reference point to search for pedigrees which had the disease gene at a different location. One pedigree provided a lod score of -3.14 at a recombination fraction of 0.06 with the p19-2 marker. We postulate that XLA is not a single genetic entity. | lld:pubmed |
| pubmed-article:3502688 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3502688 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3502688 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:3502688 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3502688 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3502688 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:3502688 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:3502688 | pubmed:author | pubmed-author:ThompsonAA | lld:pubmed |
| pubmed-article:3502688 | pubmed:author | pubmed-author:SchuurmanR... | lld:pubmed |
| pubmed-article:3502688 | pubmed:author | pubmed-author:SandkuylL ALA | lld:pubmed |
| pubmed-article:3502688 | pubmed:author | pubmed-author:MensinkE JEJ | lld:pubmed |
| pubmed-article:3502688 | pubmed:author | pubmed-author:SchotJ DJD | lld:pubmed |
| pubmed-article:3502688 | pubmed:author | pubmed-author:van de... | lld:pubmed |
| pubmed-article:3502688 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3502688 | pubmed:volume | 73 | lld:pubmed |
| pubmed-article:3502688 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3502688 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3502688 | pubmed:pagination | 327-32 | lld:pubmed |
| pubmed-article:3502688 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:meshHeading | pubmed-meshheading:3502688-... | lld:pubmed |
| pubmed-article:3502688 | pubmed:year | 1986 | lld:pubmed |
| pubmed-article:3502688 | pubmed:articleTitle | Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. | lld:pubmed |
| pubmed-article:3502688 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3502688 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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