@entity74 caused by MPLSer505Asn is associated with a high @entity715 risk, @entity381 and progression to XXXX .

@entity1 @entity73096 @entity1148 @entity20096 @entity64 @entity583 @entity1150 @entity4018 @entity381 @entity74 @entity3181 @entity4407 @entity715
Background The @entity20096 ( @entity73096 ) mutation has been reported to be a cause of @entity74 . Recently, we detected this mutation in a large proportion of @entity1 with @entity1148 , suggesting that in Italy the incidence of @entity20096 ( @entity73096 ) mutation could be underestimated. DESIGN AND METHODS: We extended the search for this mutation to all @entity1 with @entity4407 who had a positive family history for @entity1148 or @entity4407 . We identified eight Italian families positive for the @entity20096 ( @entity73096 ) mutation. Clinical and hematologic data were available for members of seven families, including 21 @entity1 with a proven mutation and 20 relatives with @entity1148 . RESULTS: Fifteen major @entity715 episodes, nine of which were fatal, were recorded among 41 @entity1 . The @entity715 manifestation was @entity64 in four cases, @entity583 in seven cases, fetal loss in two cases, @entity1150 of the leg in one case and @entity3181 in one case. Almost all @entity1 over 20 years old had @entity381 and @entity4018 , while these were rarely observed in @entity1 under 20 years old, suggesting that these manifestations are associated with aging. Finally, the life expectancy of family members with @entity1148 was significantly shorter than that of members without @entity1148 (P=0.003). Conclusions @entity1 with @entity1148 caused by a @entity20096 ( @entity73096 ) mutation have a high risk of @entity715 and, with aging, develop @entity381 and @entity4018 , significantly affecting their life expectancy.
