. . "1740-3332" . . "Novotn\u00FD, M." . "Journal of Thrombosis and Haemostasis" . "Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions." . . . "P(NE6062)" . . . "1" . . "[85BFC45FABD2]" . "Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions."@en . . "9"^^ . . "4" . "FVIII; antigen; mutations; molecular modeling; FVIII/FIXa"@en . . "Vorlov\u00E1, Zdenka" . . . "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 . "630978" . "RIV/00023736:_____/03:00000137" . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "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." . . . . . "Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions." . "RIV/00023736:_____/03:00000137!RIV/2004/MZ0/L33004/N" . "Habart, David" . "Kal\u00E1bov\u00E1, Dana" . . "4"^^ . "0"^^ . . "0"^^ . "Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE : modeling of 13 novel amino acid substitutions."@en . "3"^^ . "773;781" .