A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 9, 2012, Pages 1792-1801

  Camilleri, R S ^a,b   Scully, M ^c   Thomas, M ^a   Mackie, I J ^a   Liesner, R ^d   Chen, W J ^a   Manns, K ^a   Machin, S J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF WESTMINSTER   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

ADAMTS13; Congenital TTP; Missense mutations; Phenotype genotype correlation; Thrombotic thrombocytopenic purpura

Indexed keywords

ANTIGEN; BLOOD CLOTTING FACTOR 8 CONCENTRATE; CYSTEINE; METALLOPROTEINASE; THROMBOSPONDIN 1; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ADULT; ANTIBODY DETECTION; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DISEASE EXACERBATION; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; FETUS WASTAGE; FIRST TRIMESTER PREGNANCY; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; INFECTION; INTENSIVE CARE; MALE; NEWBORN DISEASE; NEWBORN PERIOD; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLASMAPHERESIS; PREGNANCY; PREGNANCY TERMINATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN SECRETION; REMISSION; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTITUTION THERAPY; THROMBOTIC THROMBOCYTOPENIC PURPURA; UNITED KINGDOM;

ADAM PROTEINS; ADULT; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; GREAT BRITAIN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PREGNANCY; PURPURA, THROMBOTIC THROMBOCYTOPENIC;

EID: 84865795302     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2012.04852.x     Document Type: Article

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