About: Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions.

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About: Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions. Goto Sponge Distinct 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	In 74 families, 59 different mutations were detected. Six different mutations were recurrent in 21 unrelated families. Thirty-four novel mutations included 19 point mutations, four small insertions, nine small deletions and two complex mutations. Thirteen novel amino acid substitutions occurred at residues conserved in FVIII orthologs. Five of them were associated with a discrepancy between FVIII activity and antigen; another five with CRM reduced phenotype and one with undetectable FVIII antigen. Multilexing of the CSGE significantly increased its throughput without substantial loss of sensitivity. Molecular modeling suggested mechanisms by which substitutions at residues 382 and 569, located outside the proposed FIXa-binding region, may influence FVIII/FIXa interaction. His2155 was predicted to participate in FVIII/VFW binding. In 74 families, 59 different mutations were detected. Six different mutations were recurrent in 21 unrelated families. Thirty-four novel mutations included 19 point mutations, four small insertions, nine small deletions and two complex mutations. Thirteen novel amino acid substitutions occurred at residues conserved in FVIII orthologs. Five of them were associated with a discrepancy between FVIII activity and antigen; another five with CRM reduced phenotype and one with undetectable FVIII antigen. Multilexing of the CSGE significantly increased its throughput without substantial loss of sensitivity. Molecular modeling suggested mechanisms by which substitutions at residues 382 and 569, located outside the proposed FIXa-binding region, may influence FVIII/FIXa interaction. His2155 was predicted to participate in FVIII/VFW binding. (en)
Title	Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions. (en)
skos:prefLabel	Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions. (en)
skos:notation	RIV/00023736:_____/03:00000137!RIV/2004/MZ0/L33004/N
http://linked.open.../vavai/riv/strany	773;781
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NE6062)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2004
http://linked.open...aciTvurceVysledku	Žáková, Dana Vorlová, Zdenka Habart, David
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	630978
http://linked.open...ai/riv/idVysledku	RIV/00023736:_____/03:00000137
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	FVIII; antigen; mutations; molecular modeling; FVIII/FIXa (en)
http://linked.open.../riv/klicoveSlovo	antigen molecular modeling mutations FVIII FVIII/FIXa
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[85BFC45FABD2]
http://linked.open...i/riv/nazevZdroje	Journal of Thrombosis and Haemostasis
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...vavai/riv/projekt	von Willebrand factor and Disease.
http://linked.open...UplatneniVysledku	2003
http://linked.open...v/svazekPeriodika	1
http://linked.open...iv/tvurceVysledku	Novotný, M. Habart, David Vorlová, Zdenka Kalábová, Dana
issn	1740-3332
number of pages	9 (xsd:int)

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