Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

Human Molecular Genetics

Volumn 19, Issue 22, 2010, Pages 4313-4318

  Rios, Jonathan ^a   Stein, Evan ^b   Shendure, Jay ^c   Hobbs, Helen H ^a   Cohen, Jonathan C ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b Metabolic and Atherosclerosis Research Center   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; NUCLEOTIDE; SITOSTEROL;

ABCG5 GENE; APOB GENE; APOE GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; DISEASE SEVERITY; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HUMAN; HYPERCHOLESTEROLEMIA; INFANT; LDLR GENE; LDLRAP GENE; NONSENSE MUTATION; PCSK9 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CHOLESTEROL; FEMALE; GENOME; HUMANS; HYPERCHOLESTEROLEMIA; INFANT; PEDIGREE; SEQUENCE ANALYSIS, DNA; SITOSTEROLS;

EID: 77958469483     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq352     Document Type: Article

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