Literature DB >> 11182933

I705 variant in the low denisty lipoprotein receptor gene has no effect on plasma cholesterol levels.

K E Heath, R A Whittal, G J Miller, S Humphries.   

Abstract

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Year:  2000        PMID： 11182933      PMCID： PMC1734689          DOI： 10.1136/jmg.37.9.713

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.

Authors:  M T Tejedor; A Cenarro; D Tejedor; M Stef; R Mateo-Gallego; I de Castro; A L García-Otin; L V Monteagudo; F Civeira; M Pocovi
Journal:  Mol Genet Genomics       Date:  2010-04-29       Impact factor: 3.291

2.  Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.

Authors:  Sureerut Porntadavity; Nutjaree Jeenduang
Journal:  Protein J       Date:  2019-08       Impact factor: 2.371

3.  Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Authors:  Abhimanyu Garg; Sergio Fazio; P Barton Duell; Alexis Baass; Chandrasekhar Udata; Tenshang Joh; Tom Riel; Marina Sirota; Danielle Dettling; Hong Liang; Pamela D Garzone; Barry Gumbiner; Hong Wan
Journal:  J Endocr Soc       Date:  2019-11-29

4.  Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Authors:  Faina M Zakharova; Dorte Damgaard; Michail Y Mandelshtam; Valery I Golubkov; Peter H Nissen; Gitte G Nilsen; Anette Stenderup; Boris M Lipovetsky; Vladimir O Konstantinov; Alexander D Denisenko; Vadim B Vasilyev; Ole Faergeman
Journal:  BMC Med Genet       Date:  2005-02-08       Impact factor: 2.103

5.  Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

Authors:  Khalid K Alharbi; Mohammed A Aldahmesh; Emmanuel Spanakis; Lema Haddad; Roslyn A Whittall; Xiao-he Chen; Hamid Rassoulian; Matt J Smith; Julie Sillibourne; Nicola J Ball; Nikki J Graham; Patricia J Briggs; Iain A Simpson; David I W Phillips; Deborah A Lawlor; Shu Ye; Stephen E Humphries; Cyrus Cooper; George Davey Smith; Shah Ebrahim; Diana M Eccles; Ian N M Day
Journal:  Genome Res       Date:  2005-07       Impact factor: 9.043
  5 in total

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