A novel mutation 347delGCC in the human low density lipoprotein receptor gene

作者：Mandelshtam MJ^*; Golubkov VI; Schur YA; Lipovetsky BM; Gaitskhoki VS

来源：Bioorganicheskaya Khimiya, 1998, 24(10): 798-800.

• mutation
• low density lipoprotein receptor
• familial hypercholesterolemia

A novel mutation (347delGCC) in the human low density lipoprotein receptor gene was found in a patient with a clinical diagnosis of familial hypercholesterolemia.

• 出版日期1998-10