Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

Human Molecular Genetics

Volumn 17, Issue 14, 2008, Pages 2101-2107

  Fahmi, Saleemah ^a   Yang, Chendong ^a   Esmail, Sophie ^a   Hobbs, Helen H ^a,c   Cohen, Jonathan C ^a,b  

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

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

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CHOLESTEROL; ISOTOPE; NIEMANN PICK TYPE C1 LIKE 1 PROTEIN;

ANIMAL CELL; ARTICLE; CHO CELL; COMPUTER MODEL; CONTROLLED STUDY; FAMILY STUDY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; GENETIC VARIABILITY; HUMAN; ISOTOPE LABELING; LIPID ABSORPTION; MONOGENIC DISORDER; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; QUANTITATIVE TRAIT; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; ANIMALS; CHO CELLS; CHOLESTEROL; CODON, NONSENSE; CRICETINAE; CRICETULUS; FEMALE; HUMANS; INTESTINAL ABSORPTION; MALE; MEMBRANE PROTEINS; VARIATION (GENETICS);

CRICETULUS GRISEUS;

EID: 46249103255     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn108     Document Type: Article

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