Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain [7]

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 2, 2006, Pages 481-483

  Kling, S J ^a   Griffee, M ^b   Flanders, M M ^c   Rodgers, George M ^b  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; FRESH FROZEN PLASMA; ISOLEUCINE; PROTHROMBIN; THREONINE; THROMBOPLASTIN;

ADULT; BLEEDING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DNA SEQUENCE; FAMILY HISTORY; HEMOSTASIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; PHENOTYPE; POSTOPERATIVE HEMORRHAGE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN STRUCTURE; PROTHROMBIN TIME; RARE DISEASE; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS; THROMBOPLASTIN TIME; AMINO ACID SUBSTITUTION; BLOOD; CHEMISTRY; FEMALE; GENETICS; HETEROZYGOTE; MIDDLE AGED; PROTEIN TERTIARY STRUCTURE;

AMINO ACID SUBSTITUTION; FACTOR V; FACTOR V DEFICIENCY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY;

EID: 33645579395     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2006.01732.x     Document Type: Letter

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