Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction

Polymerase chain reaction (PCR) amplification of specific alleles allowed the rapid detection of a point mutation (missense Gly528 → Asp) in exon 11 of the low density lipoprotein receptor gene which was otherwise not detectable by exon amplification and enzymatic digestion as it does not modify the...

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Autores principales:	Alfredo Cantafora, Ida Blotta, Elisabetta Mercuri, Sebastiano Calandra, Stefano Bertolini
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Elsevier 1998-05-01
Colección:	Journal of Lipid Research
Materias:	allele-specific primers polymerase chain reaction amplification of specific alleles
Acceso en línea:	http://www.sciencedirect.com/science/article/pii/S0022227520338797
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