A Novel Pathogenic Nonsense Triple-Nucleotide Mutation in the Low-Density Lipoprotein Receptor Gene and Its Clinical Correlation with Familial Hypercholesterolemia-Reference-Cited by-同舟云学术

A Novel Pathogenic Nonsense Triple-Nucleotide Mutation in the Low-Density Lipoprotein Receptor Gene and Its Clinical Correlation with Familial Hypercholesterolemia

Published:2011-09 Issue:9 Volume:15 Page:601-606
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ajmal Muhammad¹²,Ahmed Waqas¹,Akhtar Naveed³,Sadeque Ahmed¹,Khalid Ayesha³,Benish Ali Syeda Hafiza¹,Ahmed Nuzhat⁴,Azam Maleeha¹,Qamar Raheel¹²

Affiliation:

1. COMSATS Institute of Information Technology, Islamabad, Pakistan.

2. Shifa College of Medicine, Islamabad, Pakistan.

3. Shifa International Hospital, Islamabad, Pakistan.

4. Centre for Molecular Genetics, University of Karachi, Karachi, Pakistan.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0184

Reference23 articles.

1. Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia

2. Long-term compliance and changes in plasma lipids, plant sterols and carotenoids in children and parents with FH consuming plant sterol ester-enriched spread

3. The effects of dNTP pool imbalances on frameshift fidelity during DNA replication.

4. Familial hypercholesterolemia: Defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme a reductase activity

5. A CONTRIBUTION TO THE STUDY OF THE ETIOLOGY OF XANTHOMA MULTIPLEX

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