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| pubmed-article:1634609 | lifeskim:mentions | umls-concept:C0016132 | lld:lifeskim |
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| pubmed-article:1634609 | lifeskim:mentions | umls-concept:C1709269 | lld:lifeskim |
| pubmed-article:1634609 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:1634609 | pubmed:dateCreated | 1992-8-24 | lld:pubmed |
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| pubmed-article:1634609 | pubmed:abstractText | A mutation of the LDL receptor gene very common among Finnish patients with heterozygous familial hypercholesterolemia (FH) was identified. This mutation, designated as FH-North Karelia, deletes seven nucleotides from exon 6 of the LDL receptor gene, causes a translational frameshift, and is predicted to result in a truncated receptor protein. Only minute quantities of mRNA corresponding to the deleted gene were detected. Functional studies using cultured fibroblasts from the patients revealed that the FH-North Karelia gene is associated with a receptor-negative (or binding-defective) phenotype of FH. Carriers of the FH-North Karelia gene showed a typical xanthomatous form of FH, with mean serum total and LDL cholesterol levels of 12 and 10 mmol/liter, respectively. This mutation was found in 69 (34%) out of 201 nonrelated Finnish FH patients and was especially abundant (prevalence 79%) in patients from the eastern Finland. These results, combined with our earlier data on another LDL receptor gene deletion (FH-Helsinki), demonstrate that two "Finnish-type" mutant LDL receptor genes make up about two thirds of FH mutations in this country, reflecting a founder gene effect. This background provides good possibilities to examine whether genetic heterogeneity affects the clinical presentation or responsiveness to therapeutic interventions in FH. | lld:pubmed |
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| pubmed-article:1634609 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1634609 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1634609 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:1634609 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1634609 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:1634609 | pubmed:issn | 0021-9738 | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:FrantsR RRR | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:KovanenP TPT | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:KontulaKK | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:KoivistoU MUM | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:SyvänenA CAC | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:TurtolaHH | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:ToiYY | lld:pubmed |
| pubmed-article:1634609 | pubmed:author | pubmed-author:Aalto-SetäläK... | lld:pubmed |
| pubmed-article:1634609 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1634609 | pubmed:volume | 90 | lld:pubmed |
| pubmed-article:1634609 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1634609 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1634609 | pubmed:pagination | 219-28 | lld:pubmed |
| pubmed-article:1634609 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:1634609 | pubmed:meshHeading | pubmed-meshheading:1634609-... | lld:pubmed |
| pubmed-article:1634609 | pubmed:meshHeading | pubmed-meshheading:1634609-... | lld:pubmed |
