Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis

Thrombosis Research

Volumn 103, Issue 1, 2001, Pages 3-8

  Knoll, Bernadette ^a   Hach Wunderle, Viola ^b   Rieger, Sandra ^c   Häring, Daniela ^c   Mannhalter, Christine ^c  

^a UNIVERSITY OF SALZBURG   (Austria)

^b Institute for Vascular Medicine   (Germany)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Combined protein C and protein S deficiency; Protein C gene mutation; Protein S allelic exclusion; Venous thrombosis

Indexed keywords

ALANINE DERIVATIVE; CARRIER PROTEIN; MUTANT PROTEIN; PROTEIN C; PROTEIN S; THREONINE;

ADULT; AGE; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; HETEROZYGOSITY; HIGH RISK POPULATION; HUMAN; HUMAN CELL; IMMUNOLOGICAL PROCEDURES; MALE; MEDICAL DOCUMENTATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; RISK FACTOR; RNA SPLICING; THROMBOEMBOLISM; VEIN THROMBOSIS;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HETEROZYGOTE; HUMANS; LOSS OF HETEROZYGOSITY; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN C; PROTEIN S; RISK FACTORS; SEVERITY OF ILLNESS INDEX; VENOUS THROMBOSIS;

EID: 0035399149     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(01)00232-8     Document Type: Article

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