Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia-Reference-Cited by-同舟云学术

Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia

Published:1999-09 Issue:3 Volume:56 Page:225-231
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Bourbon Mafalda,Fowler A. Michelle,Sun Xi-Ming,Soutar Anne K.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.1999.560308.x/fullpdf

Reference33 articles.

1. Prevalence of familial hypercholesterolemia among young north Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction;Koivisto;J Lipid Res,1993

2. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners;Leitersdorf;J Clin Invest,1989

3. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews;Meiner;Am J Hum Genet,1991

4. Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK;King-Underwood;Clin Genet,1991

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1. Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes;Atherosclerosis;2015-11

2. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project;Clinical Genetics;2009-12-02

3. A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing;Atherosclerosis;2007-11

4. Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic;Atherosclerosis;2007-09

5. Current management of severe homozygous hypercholesterolaemias;Current Opinion in Lipidology;2004-08