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• W1995170105 endingPage "180" @default.
• W1995170105 startingPage "172" @default.
• W1995170105 abstract "The low-density lipoprotein receptor (LDLr) plays a pivotal role in cholesterol homeostasis. Mutations in the LDLr gene (LDLR), which is located on chromosome 19, cause familial hypercholesterolemia (FH), an autosomal dominant disorder characterized by severe hypercholesterolemia associated with premature coronary atherosclerosis. To date almost 300 mutations have been identified in the LDLR gene. To facilitate the mutational analysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database (currently listing 210 entries) have been created." @default.
• W1995170105 created "2016-06-24" @default.
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• W1995170105 creator A5088566081 @default.
• W1995170105 creator A5091133941 @default.
• W1995170105 date "1997-01-01" @default.
• W1995170105 modified "2023-10-11" @default.
• W1995170105 title "Software and database for the analysis of mutations in the human LDL receptor gene" @default.
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• W1995170105 doi "https://doi.org/10.1093/nar/25.1.172" @default.
• W1995170105 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/146377" @default.
• W1995170105 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9016531" @default.
• W1995170105 hasPublicationYear "1997" @default.
• W1995170105 type Work @default.
• W1995170105 sameAs 1995170105 @default.

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