| pubmed-article:3631130 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3631130 | lifeskim:mentions | umls-concept:C0337704 | lld:lifeskim |
| pubmed-article:3631130 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:3631130 | lifeskim:mentions | umls-concept:C0017205 | lld:lifeskim |
| pubmed-article:3631130 | lifeskim:mentions | umls-concept:C0376249 | lld:lifeskim |
| pubmed-article:3631130 | lifeskim:mentions | umls-concept:C1742737 | lld:lifeskim |
| pubmed-article:3631130 | lifeskim:mentions | umls-concept:C0205191 | lld:lifeskim |
| pubmed-article:3631130 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:3631130 | pubmed:dateCreated | 1987-10-1 | lld:pubmed |
| pubmed-article:3631130 | pubmed:abstractText | In this study we estimate the frequency of carriers of chronic (type I) Gaucher disease among Ashkenazi Jews by examining the glucocerebrosidase activity in leukocytes in a population of 635 blood donors (441 Ashkenazi) and 57 obligatory heterozygotes. Estimation using the defect in the enzyme glucocerebrosidase (beta-glucosidase) in leukocytes is complicated by the existence of considerable overlap between enzyme activity in normals and in heterozygotes. The assay was carried out with a natural substrate labeled with 14C. Discriminant analysis was used to establish an optimal cutoff point between the obligatory heterozygotes and normal (non-Ashkenazi) subjects for the purpose of estimating frequency of carriers. Applied to the Ashkenazi group, the cutoff point identified 3.17% as heterozygotes. Corrected for errors in classification, the carrier rate was estimated as 4.67%. This figure is in good agreement with a carrier rate of 4% estimated from the number of known cases of clinical Gaucher disease ascertained in Israel. | lld:pubmed |
| pubmed-article:3631130 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3631130 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3631130 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:3631130 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3631130 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3631130 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:3631130 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:3631130 | pubmed:author | pubmed-author:KlibanskyCC | lld:pubmed |
| pubmed-article:3631130 | pubmed:author | pubmed-author:ChazanSS | lld:pubmed |
| pubmed-article:3631130 | pubmed:author | pubmed-author:MatothYY | lld:pubmed |
| pubmed-article:3631130 | pubmed:author | pubmed-author:GelernterII | lld:pubmed |
| pubmed-article:3631130 | pubmed:author | pubmed-author:CnaanAA | lld:pubmed |
| pubmed-article:3631130 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3631130 | pubmed:volume | 27 | lld:pubmed |
| pubmed-article:3631130 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3631130 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3631130 | pubmed:pagination | 561-5 | lld:pubmed |
| pubmed-article:3631130 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:meshHeading | pubmed-meshheading:3631130-... | lld:pubmed |
| pubmed-article:3631130 | pubmed:year | 1987 | lld:pubmed |
| pubmed-article:3631130 | pubmed:articleTitle | Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews. | lld:pubmed |
| pubmed-article:3631130 | pubmed:publicationType | Journal Article | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:3631130 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:3631130 | lld:pubmed |
