| pubmed-article:2339706 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:2339706 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:2339706 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:2339706 | lifeskim:mentions | umls-concept:C0000744 | lld:lifeskim |
| pubmed-article:2339706 | lifeskim:mentions | umls-concept:C0003593 | lld:lifeskim |
| pubmed-article:2339706 | lifeskim:mentions | umls-concept:C0023745 | lld:lifeskim |
| pubmed-article:2339706 | lifeskim:mentions | umls-concept:C2828389 | lld:lifeskim |
| pubmed-article:2339706 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:2339706 | pubmed:dateCreated | 1990-6-21 | lld:pubmed |
| pubmed-article:2339706 | pubmed:abstractText | Abetalipoproteinemia (ABLP) is a rare autosomal recessive disease characterized by a lack of plasma apolipoprotein B (apo B). In this report, the hypothesis that ABLP is due to rare mutations in the apo B gene was tested. A total of eight ABLP families were studied. Apo B gene RFLPs were used to establish the haplotypes of the apo B alleles in family members. LOD score analysis was used to study the linkage between the apo B alleles and ABLP. These families were categorized arbitrarily as class I, II, III, or IV because of differences in the results derived from both haplotyping and LOD score analysis. In a class I family, affected siblings, who on the basis of the hypothesis would be expected to have the same apo B alleles, had different ones. LOD score analysis of this family gave an infinite negative number at a recombination fraction (theta) of zero. In two class II families, probands who were the result of consanguineous marriages and who, on the basis of the hypothesis, should be homozygotes for a defective apo B allele, were heterozygotes at this locus. The sum of the LOD scores from these two families was -1.7 at theta = 0. In one class III family, a parent was apparently homozygous for a particular apo B allele and yet not affected. This also contributed negatively to the LOD score. In four class IV families, disease inheritance was compatible with segregation of the apo B alleles. This, however, was not statistically significant (LOD score = 0.97 at theta = 0).(ABSTRACT TRUNCATED AT 250 WORDS) | lld:pubmed |
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| pubmed-article:2339706 | pubmed:language | eng | lld:pubmed |
| pubmed-article:2339706 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2339706 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:2339706 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:2339706 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:2339706 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:2339706 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:CooperMM | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:BreslowJ LJL | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:DeckelbaumR... | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:HuangL SLS | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:de GraafJJ | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:JänneP APA | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:KaydenHH | lld:pubmed |
| pubmed-article:2339706 | pubmed:author | pubmed-author:DecklebaumR... | lld:pubmed |
| pubmed-article:2339706 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:2339706 | pubmed:volume | 46 | lld:pubmed |
| pubmed-article:2339706 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:2339706 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:2339706 | pubmed:pagination | 1141-8 | lld:pubmed |
| pubmed-article:2339706 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:2339706 | pubmed:meshHeading | pubmed-meshheading:2339706-... | lld:pubmed |
| pubmed-article:2339706 | pubmed:year | 1990 | lld:pubmed |
| pubmed-article:2339706 | pubmed:articleTitle | Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia. | lld:pubmed |
| pubmed-article:2339706 | pubmed:affiliation | Laboratory of Biochemical Genetics and Metabolism, Rockefeller University, New York, NY 10021. | lld:pubmed |
| pubmed-article:2339706 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:2339706 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:2339706 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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