A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA-Reference-Cited by-同舟云学术

A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA

Published:2003-09-05 Issue:5 Volume:93 Page:
ISSN:0009-7330
Container-title:Circulation Research
language:en
Short-container-title:Circulation Research

Author:

Al-Kateb Hussam¹,Bautz Ekkehard K.F.²,Luft Friedrich C.³,Bähring Sylvia³

Affiliation:

1. Institute of Molecular Genetics, University of Heidelberg, Heidelberg, Germany, Franz Volhard Clinic, HELIOS Klinikum-Berlin, Medical Faculty of the Charité and, Max-Delbruck-Center for Molecular Medicine, Berlin, Germany, hussam-alkateb@usa.com

2. Institute of Molecular Genetics, University of Heidelberg, Heidelberg, Germany

3. Franz Volhard Clinic, HELIOS Klinikum-Berlin, Medical Faculty of the Charité and, Max-Delbruck-Center for Molecular Medicine, Berlin, Germany

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine,Physiology

Link

https://www.ahajournals.org/doi/pdf/10.1161/01.RES.0000089508.53350.70

Reference5 articles.

1. Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

2. Molecular mechanisms of autosomal recessive hypercholesterolemia

3. Mutation in the ARH Gene and a Chromosome 13q Locus Influence Cholesterol Levels in a New Form of Digenic-Recessive Familial Hypercholesterolemia

4. Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

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