About: Two cases of congenital dysfibrinogenemia associated with thrombosis : Fibrinogen Praha III and Fibrinogen Plzen

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About: Two cases of congenital dysfibrinogenemia associated with thrombosis : Fibrinogen Praha III and Fibrinogen Plzen Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Congenital dysfibrinogenemia is a rare disease characterised by inherited abnormality in the fibrinogen molecule, resulting in functional defects. Two patients, a 26-year-old woman and a 61-year-old man, both with history of thrombotic events, had abnormal coagulation test results. DNA sequencing showed the heterozygous gamma Y363N mutation (Fibrinogen Praha 111) and the heterozygous A alpha N106D mutation (Fibrinogen Plzen), respectively. Although both mutations are situated in different regions of the molecule, both mutations have a very similar effect on fibrinogen functions and both are connected with thromboses Congenital dysfibrinogenemia is a rare disease characterised by inherited abnormality in the fibrinogen molecule, resulting in functional defects. Two patients, a 26-year-old woman and a 61-year-old man, both with history of thrombotic events, had abnormal coagulation test results. DNA sequencing showed the heterozygous gamma Y363N mutation (Fibrinogen Praha 111) and the heterozygous A alpha N106D mutation (Fibrinogen Plzen), respectively. Although both mutations are situated in different regions of the molecule, both mutations have a very similar effect on fibrinogen functions and both are connected with thromboses (en)
Title	Two cases of congenital dysfibrinogenemia associated with thrombosis : Fibrinogen Praha III and Fibrinogen Plzen Two cases of congenital dysfibrinogenemia associated with thrombosis : Fibrinogen Praha III and Fibrinogen Plzen (en)
skos:prefLabel	Two cases of congenital dysfibrinogenemia associated with thrombosis : Fibrinogen Praha III and Fibrinogen Plzen Two cases of congenital dysfibrinogenemia associated with thrombosis : Fibrinogen Praha III and Fibrinogen Plzen (en)
skos:notation	RIV/00023736:_____/09:00008205!RIV10-MZ0-00023736
http://linked.open...avai/riv/aktivita	P V Z
http://linked.open...avai/riv/aktivity	P(KAN200670701), P(NS9636), V, Z(AV0Z40500505), Z(MZ00237360001), Z(MZ0UHKT2005)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Sobotková, Alžběta Salaj, Peter Dyr, Jan Evangelista Suttnar, Jiří Kotlín, Roman Reicheltová, Zuzana Riedel, Tomáš
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Ústav hematologie a krevní transfúze
http://linked.open...dnocenehoVysledku	347154
http://linked.open...ai/riv/idVysledku	RIV/00023736:_____/09:00008205
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	dysfibrogenemia; fibrinogen; missense mutation; pulmonary embolism; thrombosis (en)
http://linked.open.../riv/klicoveSlovo	dysfibrogenemia fibrinogen thrombosis pulmonary embolism missense mutation
http://linked.open...odStatuVydavatele	DE - Spolková republika Německo
http://linked.open...ontrolniKodProRIV	[5361D238B09B]
http://linked.open...i/riv/nazevZdroje	Thrombosis and Haemostasis
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...vavai/riv/projekt	Surface plasmon resonance biosensors and protein arrays for medical diagnostics Congenital and acquired dysfibrinogenemias and hypofibrinogenemias
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	102
http://linked.open...iv/tvurceVysledku	Dyr, Jan Evangelista Kotlín, Roman Reicheltová, Zuzana Salaj, Peter Suttnar, Jiří Malý, M. Riedel, Tomáš Sobotková, Alžběta Hirmerová, J.
http://linked.open...ain/vavai/riv/wos	000269890200009
http://linked.open...n/vavai/riv/zamer	Progresivní makromolekulární materiály a supramolekulární systémy: syntéza a studium vlastností, jevů a možností využití pro speciální aplikace a moderní technologie Význam molekulárně biologických vyšetření pro objasnění patogeneze a pro diagnostiku poruch krvetvorby a využití krvetvorné buňky v léčbě onemocnění krvetvorby a jiných tkání. Pathophysiology,diagnosis, and treatment of blood malignancies and blood coagulation disorders
issn	0340-6245
number of pages	8 (xsd:int)

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