Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA-Reference-Cited by-同舟云学术

Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA

Published:1998 Issue:2 Volume:12 Page:95-102
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Rødningen Olaug K.,Tonstad Serena,Ose Leiv,Berg Kåre,Leren Trond P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. The Finnish type of the LDL receptor gene mutation: Molecular characterization of the deleted gene and the corresponding mRNA

2. Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.

3. Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland

4. A simple method for generating single-stranded DNA probes labeled to high activities

5. (1995) Familial hypercholesterolemia. In (eds): The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 1981-2030.

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1. Pervasive allele-specific regulation on RNA decay in hybrid mice;Life Science Alliance;2018-05

2. Genetic analysis in a compound heterozygote family with familial hypercholesterolemia;Molecular Medicine Reports;2018-04-20

3. Sequence variations affecting AU-rich element function and disease;Frontiers in Bioscience;2012

4. Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene;Journal of Lipid Research;1999-02

5. Mutant transcripts of the LDL receptor gene: mRNA structure and quantity;Human Mutation;1999