Literature DB >> 8535447

Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia.

A J Ward1, M O'Kane, I Young, D P Nicholls, N C Nevin, C A Graham.   

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Year:  1995        PMID： 8535447     DOI： 10.1002/humu.1380060311

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  Software and database for the analysis of mutations in the human LDL receptor gene.

Authors:  M Varret; J P Rabès; G Collod-Béroud; C Junien; C Boileau; C Béroud
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

2.  Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Authors:  Ingrid Brænne; Mariana Kleinecke; Benedikt Reiz; Elisabeth Graf; Tim Strom; Thomas Wieland; Marcus Fischer; Thorsten Kessler; Christian Hengstenberg; Thomas Meitinger; Jeanette Erdmann; Heribert Schunkert
Journal:  Eur J Hum Genet       Date:  2015-06-03       Impact factor: 4.246

3.  Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Authors:  Amit V Khera; Heather Mason-Suares; Deanna Brockman; Minxian Wang; Martin J VanDenburgh; Ozlem Senol-Cosar; Candace Patterson; Christopher Newton-Cheh; Seyedeh M Zekavat; Julie Pester; Daniel I Chasman; Christopher Kabrhel; Majken K Jensen; JoAnn E Manson; J Michael Gaziano; Kent D Taylor; Nona Sotoodehnia; Wendy S Post; Stephen S Rich; Jerome I Rotter; Eric S Lander; Heidi L Rehm; Kenney Ng; Anthony Philippakis; Matthew Lebo; Christine M Albert; Sekar Kathiresan
Journal:  J Am Coll Cardiol       Date:  2019-11-11       Impact factor: 24.094

4.  Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Authors:  Steve E Humphries; Treena Cranston; Marcus Allen; Helen Middleton-Price; Maryam C Fernandez; Victoria Senior; Emma Hawe; Andrew Iversen; Richard Wray; Martin A Crook; Anthony S Wierzbicki
Journal:  J Mol Med (Berl)       Date:  2005-12-31       Impact factor: 4.599
  4 in total

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