we propose that A91V may represent a molecular alteration that is not, per se, causative of the disease and not sufficient to impair the cytolytic activity. Beside this, A91V seems to play a role in the pathogenesis of the disease conferring a genetic susceptibility in the development of FHLH.
A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype / Udo zur Stadt, ; Beutel, Karin; Weber, Belinda; Kabisch, Hartmut; Schneppenheim, Reinhard; Janka, Gritta; Busiello, Rosanna; Galgani, Mario; Carmela De Fusco, ; Poggi, Vincenzo; Adriani, Marsilio; Racioppi, Luigi; Pignata, Claudio. - In: BLOOD. - ISSN 0006-4971. - STAMPA. - 104:6(2004), pp. 1909-1909. [10.1182/blood-2004-02-0733]
A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype
Mario Galgani;RACIOPPI, LUIGI;Claudio Pignata
2004
Abstract
we propose that A91V may represent a molecular alteration that is not, per se, causative of the disease and not sufficient to impair the cytolytic activity. Beside this, A91V seems to play a role in the pathogenesis of the disease conferring a genetic susceptibility in the development of FHLH.| File | Dimensione | Formato | |
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