A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol-Reference-Cited by-同舟云学术

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A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol

Published:2007-05-21 Issue:14 Volume:16 Page:1765-1772
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Zhu Haiyan,Tucker H. Michael,Grear Karrie E.,Simpson James F.,Manning Alisa K.,Cupples L. Adrienne,Estus Steven

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/16/14/1765/6951304/ddm124.pdf

Reference34 articles.

1. RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons;Fairbrother;Nucl. Acids Res.,2004

2. Single nucleotide polymorphism-based validation of exonic splicing enhancers;Fairbrother;PLoS. Biol.,2004

3. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1;Zatkova;Hum. Mutat.,2004

4. Linking C5 deficiency to an exonic splicing enhancer mutation;Pfarr;J. Immunol.,2005

5. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles;Steiner;Hum. Mutat.,2004

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