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Software and database for the analysis of mutations in the human LDL receptor gene
- Source :
- Nucleic Acids Research, Nucleic Acids Research, Oxford University Press, 1997, 25 (1), pp.172-80
- Publication Year :
- 1997
- Publisher :
- HAL CCSD, 1997.
-
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.
- Subjects :
- MESH: Mutation
Databases, Factual
Genotype
MESH: Chromosomes, Human, Pair 19
Familial hypercholesterolemia
[SDV.GEN] Life Sciences [q-bio]/Genetics
Biology
MESH: Base Sequence
medicine.disease_cause
Bioinformatics
MESH: Phenotype
Hyperlipoproteinemia Type II
MESH: Genotype
MESH: Software
Genotype-phenotype distinction
[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
Chromosome 19
Genetics
medicine
Humans
cardiovascular diseases
Gene
[INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]
Mutation
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Humans
Base Sequence
food and beverages
nutritional and metabolic diseases
medicine.disease
Phenotype
MESH: Databases, Factual
MESH: Genes
[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
MESH: Hyperlipoproteinemia Type II
Genes
Receptors, LDL
MESH: Receptors, LDL
LDL receptor
lipids (amino acids, peptides, and proteins)
[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]
Chromosomes, Human, Pair 19
Software
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 03051048 and 13624962
- Database :
- OpenAIRE
- Journal :
- Nucleic Acids Research, Nucleic Acids Research, Oxford University Press, 1997, 25 (1), pp.172-80
- Accession number :
- edsair.doi.dedup.....a7d02f649685e3fabb12ed28cf875fd8