Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco-Reference-Cited by-同舟云学术

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Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco

Published:2006-11 Issue:1-2 Volume:373 Page:62-69
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Chater R.,Aït Chihab K.,Rabès J.P.,Varret M.,Chabraoui L.,El Jahiri Y.,Adlouni A.,Boileau C.,Kettani A.,El Messal M.

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference26 articles.

1. Familial hypercholesterolemia;Goldstein,1995

2. Familial hypercholesterolemia;Goldstein,2001

3. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding;Innerarity;Proc Natl Acad Sci U S A,1987

4. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat Genet,2003

5. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the familial hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDL receptor and apoB genes;Damgaard;Atherosclerosis,2004

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification and functional characterization of two rare LDLR stop gain variants (p.c231*and p.R744*) in Saudi familial hypercholesterolemia patients;PANMINERVA MED;2023

2. Functional analysis of six uncharacterised mutations in LDLR gene;Atherosclerosis;2019-12

3. Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries;Atherosclerosis;2018-12

4. The Molecular Genetic Background of Familial Hypercholesterolemia: Data From the Slovak Nation-Wide Survey;Physiological Research;2017-02-19

5. Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children;Genomics;2016-01

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