ArticleThe Clinical investigator1993
Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.
Article in The Clinical investigator, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- DNA-binding proteins from MBD through ZF to BEN: recognition of cytosine methylation status by one arginine with two conformations.Nucleic acids research · 2024Article
- Software and database for the analysis of mutations in the human LDL receptor gene.Nucleic acids research · 1997Article
- European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.The Clinical investigator · 1994Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia is caused by various mutations in the gene encoding the low-density lipoprotein receptor. To date more than 100 mutations have been identified, including insertions and deletions as well as single base changes. In the German population haplotype analysis using four restriction fragment length polymorphisms has recently suggested that there exist at least six different genetic defects. Screening 100 FH patients of German origin for the serine 156 to leucine mutation, originally described in a Puerto Rican family living in the United States, resulted in the identification of the mutation in one family. However, by haplotype analysis the mutation was found on a different haplotype from that reported originally. Based on comparison of the haplotypes and their frequencies we suggest that this mutation has occurred independently at least twice.
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