Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family

Circulation: Cardiovascular Genetics

Volumn 5, Issue 5, 2012, Pages 538-546

  Reddy, M V Prasad Linga ^a   Iatan, Iulia ^b   Weissglas Volkov, Daphna ^a   Nikkola, Elina ^a   Haas, Blake E ^a   Ruel, Miina Juvonen Isabelle ^b   Sinsheimer, Janet S ^a   Genest, Jacques ^b   Pajukanta, Päivi ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

Exome sequencing; Genetics; HDL cholesterol; Rare variants

Indexed keywords

ABC TRANSPORTER A1; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MULTIDRUG RESISTANCE PROTEIN 1;

ADULT; ARTICLE; CANADA; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DNA SEQUENCE; EXOME; EXON; FAMILY; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; CELLS, CULTURED; CHOLESTEROL, LDL; EXOME; FAMILY; GENETIC LINKAGE; GENOME, HUMAN; GENOTYPE; HUMANS; LIPOPROTEIN LIPASE; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; SEX FACTORS;

EID: 84868612596     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.112.963264     Document Type: Article

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