Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload

Hepatology

Volumn 62, Issue 2, 2015, Pages 429-439

  Mclaren, Christine E ^a   Emond, Mary J ^b   Subramaniam, V Nathan ^c,d   Phatak, Pradyumna D ^e   Barton, James C ^f   Adams, Paul C ^g   Goh, Justin B ^c,d   Mcdonald, Cameron J ^c   Powell, Lawrie W ^c,d,h   Gurrin, Lyle C ⁱ   Allen, Katrina J ^j   Nickerson, Deborah A ^b   Louie, Tin ^b   Ramm, Grant A ^c,d   Anderson, Gregory J ^c,d   Mclaren, Gordon D ^a,k  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e ROCHESTER GENERAL HOSPITAL   (United States)

^f SOUTHERN IRON DISORDERS CENTER   (United States)

^g LONDON HEALTH SCIENCES CENTRE   (Canada)

^h ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

^j MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^k VA LONG BEACH HEALTHCARE SYSTEM   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; FERRITIN; GLYCERONEPHOSPHATE O ACYLTRANSFERASE; HEPCIDIN; MESSENGER RNA; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; GLYCERONE-PHOSPHATE O-ACYLTRANSFERASE; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

ADULT; ALCOHOL CONSUMPTION; ARTICLE; AUSTRALIA; CANADA; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EXOME; FERRITIN BLOOD LEVEL; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; IRON OVERLOAD; MALE; MIDDLE AGED; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES; ALLELE; ANALYSIS OF VARIANCE; BLOOD; CASE CONTROL STUDY; COMPARATIVE STUDY; GENETICS; HEPG2 CELL LINE; LIVER CIRRHOSIS; PATHOPHYSIOLOGY; PHYSIOLOGY; POINT MUTATION; PROCEDURES; REAL TIME POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX; WESTERN BLOTTING;

ACYLTRANSFERASES; ALLELES; ANALYSIS OF VARIANCE; BLOTTING, WESTERN; CASE-CONTROL STUDIES; EXOME; FERRITINS; GENETIC VARIATION; HEMOCHROMATOSIS; HEP G2 CELLS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IRON OVERLOAD; LIVER CIRRHOSIS; MALE; MEMBRANE PROTEINS; PHENOTYPE; POINT MUTATION; REAL-TIME POLYMERASE CHAIN REACTION; RNA, SMALL INTERFERING; SEQUENCE ANALYSIS, PROTEIN; SEVERITY OF ILLNESS INDEX;

EID: 84938209461     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.27711     Document Type: Article

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