About: Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo

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About: Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Hereditary dysfibrinogenemia is a rare disorder wherein an inherited abnormality in fibrinogen structure may result in defective fibrin function and/or structure. Congenital hypofibrinogenemia is a rare autosomal bleeding disorder, either recessive or dominant, characterized by a low fibrinogen plasma level. A 28-year-old asymptomatic woman (fibrinogen Rokycany) and a 54-year-old man with thrombosis and pulmonary embolism (fibrinogen Znojmo) were investigated for a suspected fibrinogen mutation after abnormal coagulation tests results were obtained. Hereditary dysfibrinogenemia is a rare disorder wherein an inherited abnormality in fibrinogen structure may result in defective fibrin function and/or structure. Congenital hypofibrinogenemia is a rare autosomal bleeding disorder, either recessive or dominant, characterized by a low fibrinogen plasma level. A 28-year-old asymptomatic woman (fibrinogen Rokycany) and a 54-year-old man with thrombosis and pulmonary embolism (fibrinogen Znojmo) were investigated for a suspected fibrinogen mutation after abnormal coagulation tests results were obtained. (en)
Title	Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo (en)
skos:prefLabel	Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo (en)
skos:notation	RIV/61389013:_____/10:00390997!RIV13-AV0-61389013
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(KAN200670701), P(NS9636), Z(AV0Z40500505), Z(MZ0UHKT2005), Z(MZ0VFN2005)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	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 makromolekulární chemie AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	293875
http://linked.open...ai/riv/idVysledku	RIV/61389013:_____/10:00390997
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	fibrinogen; missense mutation; hypofibrinogenemia (en)
http://linked.open.../riv/klicoveSlovo	fibrinogen missense mutation hypofibrinogenemia
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[6D8EDCF5AA85]
http://linked.open...i/riv/nazevZdroje	Journal of Thrombosis and Thrombolysis
http://linked.open...in/vavai/riv/obor	CD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (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	2010
http://linked.open...v/svazekPeriodika	30
http://linked.open...iv/tvurceVysledku	Dyr, J. E. Suttnar, J. Malý, M. Oravec, M. Riedel, Tomáš Kvasnička, J. Salaj, P. Hrachovinová, I. Kotlín, R. Reicheltová, Z.
http://linked.open...ain/vavai/riv/wos	000282215300008
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. Diagnosis and treatment of inherited disorders II
issn	0929-5305
number of pages	8 (xsd:int)
http://bibframe.org/vocab/doi	10.1007/s11239-010-0505-1

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