Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: Diagnosis and long-term treatment with subcutaneous protein C concentrate

British Journal of Haematology

Volumn 172, Issue 5, 2016, Pages 811-813

  Boey, Jir P ^a,b,c   Jolley, Alexandra ^d   Nicholls, Catherine ^d   Lerda, Nancy ^d   Duncan, Elizabeth ^c   Gallus, Alexander ^a,b,c   Ross, David M ^a,b,c   Sobieraj Teague, Magdalena ^a,c  

^a FLINDERS MEDICAL CENTRE   (Australia)

^b FLINDERS UNIVERSITY   (Australia)

^c SA Pathology ^*  (Australia)

^d Genetics and Molecular Pathology   (Australia)

Author keywords

Compound heterozygote; Frameshift mutation; Protein C deficiency; Rivaroxaban; Subcutaneous infusion

Indexed keywords

ENOXAPARIN; PROTEIN C; WARFARIN; FIBRINOLYTIC AGENT;

ADULT; ADULTHOOD; AMINO ACID SUBSTITUTION; ARTICLE; BELOW KNEE AMPUTATION; CASE REPORT; COMPARTMENT SYNDROME; EXON; FAMILY ASSESSMENT; FASCIOTOMY; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMAN; LEG THROMBOSIS; LONG TERM CARE; LUNG EMBOLISM; MISSENSE MUTATION; PRIORITY JOURNAL; PROC GENE; PROTEIN DEFICIENCY; SEQUENCE ANALYSIS; SUBSTITUTION THERAPY; TERMINAL DISEASE; YOUNG ADULT; ADOLESCENT; CHILD; GENETICS; MALE; MUTATION; PROTEIN C DEFICIENCY; VEIN THROMBOSIS;

ADOLESCENT; ADULT; CATASTROPHIC ILLNESS; CHILD; FEMALE; FIBRINOLYTIC AGENTS; HETEROZYGOTE; HUMANS; MALE; MUTATION; PROTEIN C; PROTEIN C DEFICIENCY; VENOUS THROMBOSIS;

EID: 84958880320     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.13538     Document Type: Article

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