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Statements

Subject Item
n2:RIV%2F00023736%3A_____%2F09%3A00008205%21RIV10-MZ0-00023736
rdf:type
skos:Concept n18:Vysledek
dcterms: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
dcterms: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
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
skos:notation
RIV/00023736:_____/09:00008205!RIV10-MZ0-00023736
n3:aktivita
n9:P n9:V n9:Z
n3:aktivity
P(KAN200670701), P(NS9636), V, Z(AV0Z40500505), Z(MZ00237360001), Z(MZ0UHKT2005)
n3:cisloPeriodika
3
n3:dodaniDat
n16:2010
n3:domaciTvurceVysledku
n4:6263569 n4:1778013 n4:6394701 n4:5137179 n4:9812717 n4:7950799 n4:1052128
n3:druhVysledku
n10:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
347154
n3:idVysledku
RIV/00023736:_____/09:00008205
n3:jazykVysledku
n14:eng
n3:klicovaSlova
dysfibrogenemia; fibrinogen; missense mutation; pulmonary embolism; thrombosis
n3:klicoveSlovo
n11:thrombosis n11:dysfibrogenemia n11:missense%20mutation n11:fibrinogen n11:pulmonary%20embolism
n3:kodStatuVydavatele
DE - Spolková republika Německo
n3:kontrolniKodProRIV
[5361D238B09B]
n3:nazevZdroje
Thrombosis and Haemostasis
n3:obor
n13:FD
n3:pocetDomacichTvurcuVysledku
7
n3:pocetTvurcuVysledku
9
n3:projekt
n12:NS9636 n12:KAN200670701
n3:rokUplatneniVysledku
n16:2009
n3:svazekPeriodika
102
n3:tvurceVysledku
Malý, M. Hirmerová, J. Sobotková, Alžběta Reicheltová, Zuzana Riedel, Tomáš Salaj, Peter Suttnar, Jiří Kotlín, Roman Dyr, Jan Evangelista
n3:wos
000269890200009
n3:zamer
n8:MZ00237360001 n8:AV0Z40500505 n8:MZ0UHKT2005
s:issn
0340-6245
s:numberOfPages
8