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rdf:type
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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)
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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)
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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)
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skos:notation
| - RIV/00023736:_____/09:00008205!RIV10-MZ0-00023736
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(KAN200670701), P(NS9636), V, Z(AV0Z40500505), Z(MZ00237360001), Z(MZ0UHKT2005)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00023736:_____/09:00008205
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - dysfibrogenemia; fibrinogen; missense mutation; pulmonary embolism; thrombosis (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - DE - Spolková republika Německo
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Thrombosis and Haemostasis
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Dyr, Jan Evangelista
- Kotlín, Roman
- Reicheltová, Zuzana
- Salaj, Peter
- Suttnar, Jiří
- Malý, M.
- Riedel, Tomáš
- Sobotková, Alžběta
- Hirmerová, J.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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is http://linked.open...avai/riv/vysledek
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