Four New Mutations and Two Polymorphic Variants of the Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from St. Petersburg

@article{Tatishcheva2001FourNM,
  title={Four New Mutations and Two Polymorphic Variants of the Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from St. Petersburg},
  author={Yu. A. Tatishcheva and Michail Yu. Mandelshtam and Valery I Golubkov and Boris M Lipovetsky and V. Gaitskhoki},
  journal={Russian Journal of Genetics},
  year={2001},
  volume={37},
  pages={1082-1087}
}
In a collection of DNA samples from 100 unrelated patients with clinical features of familial hypercholesterolemia (FH), a search for mutations of exons 4 and 10 of the low-density lipoprotein (LDL) receptor gene was performed using heteroduplex and single-strand conformational polymorphism (SSCP) analyses followed by sequencing of amplified DNA fragments. Four new mutations of the LDL receptor gene were identified: C146R (c.499 T > C), A130P (c.451 G > C), G128G (c.477 T > C), and C188Y (c.626… CONTINUE READING

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