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001-es BibID:	BIBFORM006787
Első szerző:	Peyvandi, Flora
Cím:	Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency / Peyvandi, F., Tagliabue, L., Menegatti, M., Karimi, M., Komaromi, I., Katona, E., Muszbek, L., Mannucci, P. M.
Dátum:	2004
ISSN:	1059-7794
Megjegyzések:	Factor XIII (FXIII) deficiency is a very rare severe autosomal bleeding disorder with a frequency of 1:2,000,000 in the general population and only a few patients have been genetically characterized so far. We report a phenotype-genotype characterization of 10 unrelated Iranian patients. Two FXIII (transglutaminase) activity assays showed no FXIII activity, except a conserved residual activity in patients receiving prophylactic substitution treatment. FXIII antigen concentrations measured by two immunoassays were comparable. Genotype characterization identified four novel mutations (2 missense and 2 small deletions) and two previously reported missense mutations in the FXIII A subunit gene (F13A). Molecular modeling was carried out to reveal the structural consequences of the missense mutations, that caused the replacement of an arginine residue involved in the formation of structurally important extensive hydrogen-bonded network. The replacements [c.320G>A (p.Arg77His) in the beta-sandwich, c.868C>T (p.Arg260Cys), c.869G>A (p.Arg260His) and c.1236G>T (p.Arg382Ser) in the core domain] resulted in the loss or impairment of such H-bonded network. Energy decomposition analysis demonstrated that this situation leads to the instability and perhaps to the incorrect folding of the A subunit, that would explain the development of severe FXIII deficiency.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Adult Child Child, Preschool DNA Mutational Analysis Factor XIII Factor XIII Deficiency Female Genotype Humans Male Middle Aged Models, Molecular Mutation, Missense Phenotype
Megjelenés:	Human mutation. - 23 : 1 (2004), p. 98-107. -
További szerzők:	Tagliabue, Liliana Menegatti, Marzia Karimi, Mehran Komáromi István (1957-) (vegyész, molekuláris biológus, biokémikus) Katona Éva (1961-) (klinikai biokémikus) Muszbek László (1942-) (haematológus, kutató orvos) Mannucci, Pier Mannuccio
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