New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis-Reference-Cited by-同舟云学术

New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis

Published:2004-07 Issue:4 Volume:27 Page:523-528
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Francová H.¹,Trbušek M.¹,Zapletalová P.¹,Kuhrová V.¹²

Affiliation:

1. ; Center of Molecular Biology and Gene Therapy; Faculty Hospital Brno; Brno Czech Republic

2. ; Center of Molecular Biology and Gene Therapy; Faculty Hospital Brno; Brno Černopolnk´ 9, CZ- 625 00 Czech Republic. E-mail

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000037337.93335.c4/fullpdf

Reference14 articles.

1. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia;Day;Hum Mutat,1997

2. The LDL receptor locus in familial hypercholesterolemia. Mutational analysis of membrane protein;Hobbs;Annu Rev Genet,1990

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

4. An LDL receptor promoter mutation in a heterozygous FHp atient with dramatically skewed ratio between the two allelic mRNA variants;Jensen;Hum Mutat,1996

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