A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S

Thrombosis Research

Volumn 125, Issue 5, 2010, Pages

  Okada, Hiromi ^a,b   Kunishima, Shinji ^a   Hamaguchi, Motohiro ^a   Takagi, Akira ^c   Yamamoto, Koji ^d   Takamatsu, Junki ^d   Matsushita, Tadashi ^e   Saito, Hidehiko ^f   Kojima, Tetsuhito ^c   Yamazaki, Tomio ^a  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b NAGOYA CITY UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY HOSPITAL   (Japan)

^e NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f NAGOYA CENTRAL HOSPITAL   (Japan)

Author keywords

APC cofactor activity; PROS1; protein S; secretion; splice site mutation; thrombosis

Indexed keywords

ACTIVATED PROTEIN C; MESSENGER RNA; OSTEOCALCIN; PROTEIN S; PROTEIN S 1; THROMBIN; UNCLASSIFIED DRUG; WARFARIN;

ADULT; AGED; ARTICLE; CARBOXYLATION; CASE REPORT; DEEP VEIN THROMBOSIS; DISEASE ASSOCIATION; DRUG EFFICACY; EXON; GENE AMPLIFICATION; GENE MUTATION; HUMAN; INTRON; MALE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN BLOOD LEVEL; PROTEIN CONFORMATION; PROTEIN DETERMINATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN S DEFICIENCY; PROTEIN SECRETION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; BLOOD PROTEINS; HUMANS; INTRONS; MALE; MUTATION; PROTEIN S; RNA SPLICE SITES; RNA, MESSENGER; THROMBIN; VENOUS THROMBOSIS;

EID: 77951667173     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.thromres.2009.11.029     Document Type: Article

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