Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain

British Journal of Haematology

Volumn 113, Issue 3, 2001, Pages 642-648

  Lind, Bent ^a,b   Koefoed, Pernille ^a   Thorsen, Sixtus ^a  

^a Mental Health Center Glostrup   (Denmark)

^b University of Copenhagen   (Denmark)

Author keywords

Catalytic domain; De novo mutation; Protein C deficiency; Serine proteinase; Venous thromboembolism

Indexed keywords

LEUCINE; PROTEIN C; SERINE; SERINE PROTEINASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DNA DETERMINATION; ENZYME ACTIVE SITE; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; PROTEIN EXPRESSION; RNA ANALYSIS; THROMBOEMBOLISM; THROMBOGENESIS; VEIN THROMBOSIS;

ADULT; ANTIGENS; BLOTTING, NORTHERN; CATALYTIC DOMAIN; CELL LINE; CHILD; CULTURE MEDIA; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; PROTEIN C; PROTEIN C DEFICIENCY; RECURRENCE; TRANSGENES; VENOUS THROMBOSIS;

EID: 0034994095     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02809.x     Document Type: Article

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