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The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient

โœ Scribed by Monika Maciag; Anna Adamowicz-Salach; Alicja Siwicka; Justyna Spychalska; Beata Burzynska


Book ID
114794616
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
209 KB
Volume
83
Category
Article
ISSN
0902-4441

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The single-strand conformational polymorphism (SSCP) method was used to look for mutations in the 3' half of exon 4 of the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia (FH). One set of conditions were found which allowed the detection of four of the mutations