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New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis

✍ Scribed by H. Francová; M. Trbušek; P. Zapletalová; V. Kuhrová


Book ID
111574756
Publisher
Springer
Year
2004
Tongue
English
Weight
89 KB
Volume
27
Category
Article
ISSN
0141-8955

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Denaturing gradient gel electrophoresis (DGGE) was used in combination with the polymerase chain reaction (PCR) to detect sequence variations in the promoter region of the low density lipoprotein receptor (LDLR) gene. On the basis of calculated predictive melting properties we designed primers to am