Stefania Murru

Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.

M. Pirastu, A. Cao, S. Murru, 1990, Genomics.

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.

B. Dallapiccola, G. Novelli, F. Sangiuolo, 1991, Genomics.

A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype.

G. Loudianos, M. Pirastu, A. Cao, 1990, Blood.