Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.-Reference-Cited by-同舟云学术

Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

Published:1995-04 Issue:4 Volume:36 Page:860-867
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Lombardi P,Sijbrands E J,van de Giessen K,Smelt A H,Kastelein J J,Frants R R,Havekes L M

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference32 articles.

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

2. The LDL receptor gene: a mosaic of exons shared with different proteins;Siidhof;Science.,1985

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

4. The Lebanese allele at the low density lipoprotein receptor locus.Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum;Leherman;J. Biol. Chem.,1987

5. Finnish type of LDL receptor gene mutation (FH Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization defective phenotype;Aalto-Setkila;J. Clin. Invest.,1989

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