Literature DB >> 9739486

Genotype/phenotype correlations in familial hypercholesterolaemia.

P Nicholls1, I S Young, C A Graham.   

Abstract

It is now possible to identify the specific gene defect in the majority of patients with familial hypercholesterolaemia. A potential benefit of this knowledge, in addition to helping with family screens, is to be able to predict the future clinical course. In order to do this, detailed genotype/phenotype correlation studies are required.

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Year:  1998        PMID： 9739486     DOI： 10.1097/00041433-199808000-00005

Source DB:  PubMed          Journal:  Curr Opin Lipidol        ISSN： 0957-9672            Impact factor:   4.776


  5 in total

1.  A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.

Authors:  A Cenarro; M Artieda; S Castillo; P Mozas; G Reyes; D Tejedor; R Alonso; P Mata; M Pocoví; F Civeira
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

Review 2.  Genetic susceptibility to cerebrovascular disease.

Authors:  David Della-Morte; Francesca Pacifici; Tatjana Rundek
Journal:  Curr Opin Lipidol       Date:  2016-04       Impact factor: 4.776

Review 3.  Choices for treatment of hyperlipidaemia.

Authors:  S Tonstad
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

4.  LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

Authors:  Christine L H Snozek; Susan A Lagerstedt; Teck K Khoo; Melvyn Rubenfire; William L Isley; Laura J Train; Linnea M Baudhuin
Journal:  Eur J Hum Genet       Date:  2008-07-23       Impact factor: 4.246

Review 5.  Pharmacogenetics of lipid diseases.

Authors:  Jose M Ordovas
Journal:  Hum Genomics       Date:  2004-01       Impact factor: 4.639
  5 in total

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