Identification of mutations in 15 Hungarian families with hereditary protein C deficiency

British Journal of Haematology

Volumn 111, Issue 1, 2000, Pages 129-135

  Dávid, Marianna ^a   Losonczy, H ^a   Sas, G ^b   Nagy, A ^a   Kutscher, G ^c   Meyer, M ^c  

^a UNIVERSITY OF PÉCS   (Hungary)

^b National Institute of Haematology and Immunology Budapest   (Hungary)

^c UNIVERSITY OF APPLIED SCIENCES JENA   (Germany)

Author keywords

Hereditary thrombophilias; Mutation screening; Polymerase chain reaction; Protein C deficiency; Sequencing

Indexed keywords

DNA FRAGMENT; PROTEIN C;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HUNGARY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; SCREENING; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOEMBOLISM; THROMBOPHILIA;

ADULT; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN C; PROTEIN C DEFICIENCY; SEQUENCE ANALYSIS, DNA; VENOUS THROMBOSIS;

EID: 0033758950     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02324.x     Document Type: Article

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