Literature DB >> 28993407

Heterozygous Null LDLR Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse.

Kamaldeep Panach1, Abhimanyu Garg2, Zahid Ahmad2.   

Abstract

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Year:  2017        PMID： 28993407      PMCID： PMC5657548          DOI： 10.1161/CIRCGENETICS.117.001767

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  24 in total

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2.  Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.

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Journal:  Circ Cardiovasc Genet       Date:  2016-03-24

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4.  Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

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7.  Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

Authors:  Fernando Civeira; Emilio Ros; Estibaliz Jarauta; Nuria Plana; Daniel Zambon; Jose Puzo; Juan P Martinez de Esteban; Juan Ferrando; Sergio Zabala; Fatima Almagro; Jose A Gimeno; Luis Masana; Miguel Pocovi
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Review 8.  Cerebrotendinous xanthomatosis.

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9.  Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Authors:  Amit V Khera; Hong-Hee Won; Gina M Peloso; Kim S Lawson; Traci M Bartz; Xuan Deng; Elisabeth M van Leeuwen; Pradeep Natarajan; Connor A Emdin; Alexander G Bick; Alanna C Morrison; Jennifer A Brody; Namrata Gupta; Akihiro Nomura; Thorsten Kessler; Stefano Duga; Joshua C Bis; Cornelia M van Duijn; L Adrienne Cupples; Bruce Psaty; Daniel J Rader; John Danesh; Heribert Schunkert; Ruth McPherson; Martin Farrall; Hugh Watkins; Eric Lander; James G Wilson; Adolfo Correa; Eric Boerwinkle; Piera Angelica Merlini; Diego Ardissino; Danish Saleheen; Stacey Gabriel; Sekar Kathiresan
Journal:  J Am Coll Cardiol       Date:  2016-04-03       Impact factor: 24.094

10.  ClinVar: public archive of relationships among sequence variation and human phenotype.

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