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Statements

Subject Item
n2:RIV%2F00023736%3A_____%2F03%3A00000137%21RIV%2F2004%2FMZ0%2FL33004%2FN
rdf:type
n10:Vysledek skos:Concept
dcterms: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.
dcterms: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.
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.
skos:notation
RIV/00023736:_____/03:00000137!RIV/2004/MZ0/L33004/N
n3:strany
773;781
n3:aktivita
n4:P
n3:aktivity
P(NE6062)
n3:cisloPeriodika
4
n3:dodaniDat
n11:2004
n3:domaciTvurceVysledku
n5:1608762 n5:1761862 n5:5297575
n3:druhVysledku
n17:J
n3:duvernostUdaju
n15:S
n3:entitaPredkladatele
n14:predkladatel
n3:idSjednocenehoVysledku
630978
n3:idVysledku
RIV/00023736:_____/03:00000137
n3:jazykVysledku
n7:eng
n3:klicovaSlova
FVIII; antigen; mutations; molecular modeling; FVIII/FIXa
n3:klicoveSlovo
n9:antigen n9:FVIII n9:molecular%20modeling n9:mutations n9:FVIII%2FFIXa
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[85BFC45FABD2]
n3:nazevZdroje
Journal of Thrombosis and Haemostasis
n3:obor
n16:FD
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
4
n3:pocetUcastnikuAkce
0
n3:pocetZahranicnichUcastnikuAkce
0
n3:projekt
n12:NE6062
n3:rokUplatneniVysledku
n11:2003
n3:svazekPeriodika
1
n3:tvurceVysledku
Novotný, M. Vorlová, Zdenka Habart, David Kalábová, Dana
s:issn
1740-3332
s:numberOfPages
9