A Case of Familial Hypercholesterolemia Caused by a Novel Mutation p. FsS65:D129X of Human Low Density Lipoprotein Receptor Gene

作者：Korneva V A^*; Kuznetsova T Yu; Komarova T Yu; Golovina A S; Mandelshtam M Yu; Konstantinov V O; Vasilyev V B

来源：Kardiologiya, 2013, 53(5): 50-54.

• familial hypercholesterolemia
• low density lipoprotein receptor

Novel mutation p. FsS65:D129X in human low density lipoprotein receptor gene in a female patient with typical clinical symptoms of familial hypercholesterolemia is described in this paper. Segregation of this mutation with hypercholesterolemia in the family of the patient from Petrozavodsk is demonstrated.

• 出版日期2013