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Title

Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation

Authors
Brungs, T
Lavenu-Bombled, C
Vilar, R
Published in Journal of Thrombosis and Haemostasis. 2017, vol. 15, no. 5, p. 876-888
Abstract Essentials Hypodysfibrinogenemia is rarely reported among the congenital fibrinogen disorders. This first systematic literature review led to identification of 51 hypodysfibrinogenemic cases. Diagnosis based only on functional/antigenic fibrinogen ratio may be insufficient. Family studies show an incomplete segregation of mutation with the clinical phenotypes.
Identifiers
PMID: 28211264
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Article (Published version) (326 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research groups Geneva Platelet Group (13)
Bases moléculaires des anomalies génétiques de l'hémostase (504)
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(ISO format)
CASINI, Alessandro et al. Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation. In: Journal of Thrombosis and Haemostasis, 2017, vol. 15, n° 5, p. 876-888. https://archive-ouverte.unige.ch/unige:94324

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Deposited on : 2017-05-16

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