Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family
Autor: | Odell Loubser, Maritha J. Kotze, María Rita Santos, Rochelle Thiart, J. Nico P. de Villiers |
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Rok vydání: | 1998 |
Předmět: |
Genetics
Costa Rica Nonsense mutation Hypercholesterolemia nutritional and metabolic diseases Cell Biology Familial hypercholesterolemia Biology medicine.disease Molecular biology Stop codon Receptors LDL Epidermal growth factor LDL receptor Mutation medicine Coding region Humans lipids (amino acids peptides and proteins) Molecular Biology Gene Polymorphism Single-Stranded Conformational Heteroduplex |
Zdroj: | Molecular and cellular probes. 11(6) |
ISSN: | 0890-8508 |
Popis: | Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH). This nonsense mutation, Q665X, results in a termination codon in the epidermal growth factor (EGF) precursor homology domain of the mature LDLR. |
Databáze: | OpenAIRE |
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