Severe protein S deficiency resulting from two novel mutations in PROS1 presenting with a relatively mild clinical phenotype

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 7, 2008, Pages 1237-1239

  Carter, I S R ^a   Hewitt, J ^a   Pu, C H ^a   Wu, J K ^a   Carter, C J ^a   MacGillivray, Ross T A ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; PROTEIN PROS1; SEX HORMONE BINDING GLOBULIN;

ARTICLE; CASE REPORT; CHROMOSOME 3P; CONTROLLED STUDY; DISEASE SEVERITY; DNA ISOLATION; DNA SEQUENCE; DOWN SYNDROME; EXTRACHROMOSOMAL INHERITANCE; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; POSTOPERATIVE THROMBOSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; PROTEIN FUNCTION; PSEUDOGENE; RISK FACTOR; SEQUENCE ANALYSIS;

BLOOD PROTEINS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HUMANS; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN S DEFICIENCY; SEQUENCE DELETION;

EID: 45549093499     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03012.x     Document Type: Article

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