Literature DB >> 20452591

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.

David Ng, Emma Spaulding, James C Mullikin, Leslie G Biesecker.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20452591      PMCID： PMC2914107          DOI： 10.1016/j.atherosclerosis.2010.04.011

Source DB:  PubMed          Journal:  Atherosclerosis        ISSN： 0021-9150            Impact factor:   5.162


× No keyword cloud information.
  6 in total

1.  Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

Authors:  Jonathan C Cohen; Robert S Kiss; Alexander Pertsemlidis; Yves L Marcel; Ruth McPherson; Helen H Hobbs
Journal:  Science       Date:  2004-08-06       Impact factor: 47.728

2.  Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

Authors:  I N Day; R A Whittall; S D O'Dell; L Haddad; M K Bolla; V Gudnason; S E Humphries
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

3.  Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

Authors:  Jonathan C Cohen; Eric Boerwinkle; Thomas H Mosley; Helen H Hobbs
Journal:  N Engl J Med       Date:  2006-03-23       Impact factor: 91.245

4.  Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.

Authors:  A D Laurie; R S Scott; P M George
Journal:  Atheroscler Suppl       Date:  2004-12       Impact factor: 3.235

5.  The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Authors:  Leslie G Biesecker; James C Mullikin; Flavia M Facio; Clesson Turner; Praveen F Cherukuri; Robert W Blakesley; Gerard G Bouffard; Peter S Chines; Pedro Cruz; Nancy F Hansen; Jamie K Teer; Baishali Maskeri; Alice C Young; Teri A Manolio; Alexander F Wilson; Toren Finkel; Paul Hwang; Andrew Arai; Alan T Remaley; Vandana Sachdev; Robert Shamburek; Richard O Cannon; Eric D Green
Journal:  Genome Res       Date:  2009-07-14       Impact factor: 9.043

6.  A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

Authors:  Timothy M Frayling; Nicholas J Timpson; Michael N Weedon; Eleftheria Zeggini; Rachel M Freathy; Cecilia M Lindgren; John R B Perry; Katherine S Elliott; Hana Lango; Nigel W Rayner; Beverley Shields; Lorna W Harries; Jeffrey C Barrett; Sian Ellard; Christopher J Groves; Bridget Knight; Ann-Marie Patch; Andrew R Ness; Shah Ebrahim; Debbie A Lawlor; Susan M Ring; Yoav Ben-Shlomo; Marjo-Riitta Jarvelin; Ulla Sovio; Amanda J Bennett; David Melzer; Luigi Ferrucci; Ruth J F Loos; Inês Barroso; Nicholas J Wareham; Fredrik Karpe; Katharine R Owen; Lon R Cardon; Mark Walker; Graham A Hitman; Colin N A Palmer; Alex S F Doney; Andrew D Morris; George Davey Smith; Andrew T Hattersley; Mark I McCarthy
Journal:  Science       Date:  2007-04-12       Impact factor: 47.728
  6 in total
  1 in total

1.  Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project.

Authors:  Leslie G Biesecker
Journal:  Genet Med       Date:  2012-02-16       Impact factor: 8.822
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.