ArticleNucleic acids research1997
Software and database for the analysis of mutations in the human LDL receptor gene.
Article in Nucleic acids research, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 52 citations in OpenAlex.
- Association of LDLR rs1433099 with the Risk of NAFLD and CVD in Chinese Han Population.Journal of clinical and translational hepatology · 2021Article
- The relaxin family peptide receptor 1 (RXFP1): An emerging player in human health and disease.Molecular genetics & genomic medicine · 2020Review
- Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.The protein journal · 2019Article
- Genetic variation and atherosclerosis.Current genomics · 2008Article
- Expression of an LDL receptor allele with two different mutations (E256K and I402T).Molecular pathology : MP · 2000Article
- A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.American journal of human genetics · 1999Article
- p53 gene mutation: software and database.Nucleic acids research · 1998Article
- Software and database for the analysis of mutations in the human WT1 gene.Nucleic acids research · 1998Article
- LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.Nucleic acids research · 1998Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.