Novel fibrinogen γ375 Arg→Trp mutation (fibrinogen Aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia

Hepatology

Volumn 36, Issue 3, 2002, Pages 652-658

  Brennan, Stephen O ^a   Maghzal, Ghassan ^a   Shneider, Benjamin L ^b   Gordon, Ronald ^b   Magid, Margret S ^b   George, Peter M ^a  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; DNA;

AFIBRINOGENEMIA; ARTICLE; CHEMISTRY; ENDOPLASMIC RETICULUM; FAMILY HEALTH; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; ISOELECTRIC FOCUSING; LIVER; METABOLISM; PATHOLOGY; POINT MUTATION; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; BLOOD CLOTTING; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; HUMAN TISSUE; HYPOFIBRINOGENEMIA; IMMUNOHISTOCHEMISTRY; LIVER CELL; MASS SPECTROMETRY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS;

AFIBRINOGENEMIA; CHILD, PRESCHOOL; ENDOPLASMIC RETICULUM; FAMILY HEALTH; FEMALE; FIBRINOGEN; HETEROZYGOTE; HUMANS; ISOELECTRIC FOCUSING; LIVER; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY;

EID: 0036707542     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1053/jhep.2002.35063     Document Type: Article

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