One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis

American Journal of Hematology

Volumn 81, Issue 10, 2006, Pages 787-797

  Mizukami, Kazuhiro ^a   Nakabayashi, Toru ^a   Naitoh, Sumiyoshi ^a   Takeda, Mika ^a   Tarumi, Takashi ^a   Mizoguchi, Itaru ^a   Ieko, Masahiro ^a   Koike, Takao ^b  

^a HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

Author keywords

DNA sequencing; Missense mutation; Protein S; Protein S deficiency; Splice site mutation

Indexed keywords

ARGININE; CYTOSINE; LAMININ; NUCLEOTIDE; PROTEIN S; PROTEIN S SAPPORO 1; PROTEIN S SAPPORO 2; THYMINE; TRYPTOPHAN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DEEP VEIN THROMBOSIS; DISEASE ASSOCIATION; EXON; GENE AMPLIFICATION; GENE MUTATION; HUMAN; INTRON; JAPAN; LUNG EMBOLISM; MALE; MARKER GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROS1 GENE; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN S DEFICIENCY; RNA SPLICING; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SEQUENCE; BLOOD PROTEINS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; GENE EXPRESSION PROFILING; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; PROTEIN S DEFICIENCY; PULMONARY EMBOLISM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; VENOUS THROMBOSIS;

EID: 33749540352     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.20689     Document Type: Article

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