Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).-Reference-Cited by-同舟云学术

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

Published:1995-06 Issue:6 Volume:36 Page:1315-1324
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Lelli N,Garuti R,Ghisellini M,Tiozzo R,Rolleri M,Aimale V,Ginocchio E,Naselli A,Bertolini S,Calandra S

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference55 articles.

1. Familial hypercholesterolemia. In The Metabolic Basis of Inherited Disease.;Goldstein,1989

2. A receptormediated pathway for cholesterol homeostasis;Brown;Science.,1986

3. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein;Hobbs;Annu. Rea Genet.,1990

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

5. Identification of deletions in the human low density lipoprotein receptor gene;Honthemke;J. Med. Genet.,1987

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