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
Rok vydání: 1998
Předmět:
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