Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Author:

Chae Jae Jin,Kim Sung Han,Kim Un Kyung,Han Ki-Hoon,Kim Hyo-Soo,Kastner Daniel L.,Namkoong Yong,Park Young-Bae,Lee Chung Choo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference34 articles.

1. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA;Yamamoto;Cell,1984

2. Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beudet AL, Sly WS, Valle D eds. The Metabolic Basis of Inherited Disease, 6th ed. New York: McGraw-Hill, 1989: 1215-1250.

3. The LDL receptor locus in familial hypercholesterolemia;Hobbs;Annu Rev Genet,1990

4. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia;Hobbs;Hum Mutat,1992

5. A large deletion in the LDL-receptor gene, the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FHPavia);Bertolini;Am J Hum Genet,1992

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