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

Jir P Boey; Alexandra Jolley; Catherine Nicholls; Nancy Lerda; Elizabeth Duncan; Alexander Gallus; David Ross; Magdalena Sobieraj-Teague

doi:10.1111/bjh.13538

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

Jir P Boey, Alexandra Jolley, Catherine Nicholls, Nancy Lerda, Elizabeth Duncan, Alexander Gallus, David Ross, Magdalena Sobieraj-Teague

College of Medicine and Public Health

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

Original language	English
Pages (from-to)	811-813
Number of pages	3
Journal	British Journal of Haematology
Volume	172
Issue number	5
DOIs	https://doi.org/10.1111/bjh.13538
Publication status	Published - 1 Mar 2016

Keywords

Compound heterozygote
Frameshift mutation
Protein C deficiency
Rivaroxaban
Subcutaneous infusion

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10.1111/bjh.13538

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Boey, J. P., Jolley, A., Nicholls, C., Lerda, N., Duncan, E., Gallus, A., Ross, D., & Sobieraj-Teague, M. (2016). 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, 172(5), 811-813. https://doi.org/10.1111/bjh.13538

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title = "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",

keywords = "Compound heterozygote, Frameshift mutation, Protein C deficiency, Rivaroxaban, Subcutaneous infusion",

author = "Boey, {Jir P} and Alexandra Jolley and Catherine Nicholls and Nancy Lerda and Elizabeth Duncan and Alexander Gallus and David Ross and Magdalena Sobieraj-Teague",

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Boey, JP, Jolley, A, Nicholls, C, Lerda, N, Duncan, E, Gallus, A , Ross, D & Sobieraj-Teague, M 2016, '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, vol. 172, no. 5, pp. 811-813. https://doi.org/10.1111/bjh.13538

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. / Boey, Jir P; Jolley, Alexandra; Nicholls, Catherine et al.
In: British Journal of Haematology, Vol. 172, No. 5, 01.03.2016, p. 811-813.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - 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

AU - Boey, Jir P

AU - Jolley, Alexandra

AU - Nicholls, Catherine

AU - Lerda, Nancy

AU - Duncan, Elizabeth

AU - Gallus, Alexander

AU - Ross, David

AU - Sobieraj-Teague, Magdalena

PY - 2016/3/1

Y1 - 2016/3/1

KW - Compound heterozygote

KW - Frameshift mutation

KW - Protein C deficiency

KW - Rivaroxaban

KW - Subcutaneous infusion

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U2 - 10.1111/bjh.13538

DO - 10.1111/bjh.13538

M3 - Article

SN - 0007-1048

VL - 172

SP - 811

EP - 813

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 5

ER -

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

Keywords

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