The DNA‐pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia von MONALDINI, L., ASSELTA, R., MALCOVATI, M., TENCHINI, M. L., DUGA, S.

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Liver histology of an afibrinogenemic patient with the Bβ‐L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS‐1 cel... von DUGA, S., BRAIDOTTI, P., ASSELTA, R., MAGGIONI, M., SANTAGOSTINO, E., PELLEGRINI, C., COGGI, G., MALCOVATI, M., TENCHINI, M. L.

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Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation von Asselta, Rosanna, Duga, Stefano, Simonic, Tatjana, Malcovati, Massimo, Santagostino, Elena, Giangrande, Paul L.F., Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

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Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain von Asselta, R., Montefusco, M. C., Duga, S., Malcovati, M., Peyvandi, F., Mannucci, P. M., Tenchini, M. L.

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Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency von Van Wijk, Richard, Montefusco, Maria Claudia, Duga, Stefano, Asselta, Rosanna, Van Solinge, Wouter, Malcovati, Massimo, Tenchini, Maria Luisa, Mannucci, Pier Mannuccio

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Identification of Four Novel Polymorphisms in the Aα and γ Fibrinogen Genes and Analysis of Association with Plasma Levels of the Protein von Menegatti, Marzia, Asselta, Rosanna, Duga, Stefano, Malcovati, Massimo, Bucciarelli, Paolo, Mannucci, Pier M, Tenchini, Maria L

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Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms von Duga, S, Soldà, G, Asselta, R, Bonati, M T, Dalprà, L, Malcovati, M, Tenchini, M L

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Monoclonal antibody pretargetting techniques for tumour localization: the avidin-biotin system von PAGANELLI, G, MALCOVATI, M, FAZIO, F

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SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population von TENCHINI, M. L, DUGA, S, BONATI, M. T, ASSELTA, R, OLDANI, A, ZUCCONI, M, MALCOVATI, M, DALPRA, L, FERINI-STRAMBI, L

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Three-dimensional structure of the tetragonal crystal form of egg-white avidin in its functional complex with biotin at 2.7 Å resolution von PUGLIESE, L, CODA, A, MALCOVATI, M, BOLOGNESI, M

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Autosomal dominant nocturnal frontal lobe epilepsy: A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome von OLDANI, A, ZUCCONI, M, ASSELTA, R, MODUGNO, M, BONATI, M. T, DALPRA, L, MALCOVATI, M, TENCHINI, M. L, SMIRNE, S, FERINI-STRAMBI, L

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Intraperitoneal radio‐localization of tumors pre‐targeted by biotinylated monoclonal antibodies von Paganelli, G., Pervez, S., Siccardi, A. G., Rowlinson, G., Deleide, G., Chiolerio, F., Malcovati, M., Scassellati, G. A., Epenetos, A. A.

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Refractory anemia with ring sideroblasts von Malcovati, Luca, MD, Cazzola, Mario, MD

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Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs von Asselta, Rosanna, Duga, Stefano, Spena, Silvia, Santagostino, Elena, Peyvandi, Flora, Piseddu, Gavino, Targhetta, Roberto, Malcovati, Massimo, Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

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Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion von Duga, Stefano, Asselta, Rosanna, Santagostino, Elena, Zeinali, Sirous, Simonic, Tatjana, Malcovati, Massimo, Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

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Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bβ-chain gene causing activation of cryptic splice sites von Spena, Silvia, Duga, Stefano, Asselta, Rosanna, Malcovati, Massimo, Peyvandi, Flora, Tenchini, Maria Luisa

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Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro ana... von Montefusco, Maria Claudia, Duga, Stefano, Asselta, Rosanna, Malcovati, Massimo, Peyvandi, Flora, Santagostino, Elena, Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

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Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene von SPENA, Silvia, DUGA, Stefano, ASSELTA, Rosanna, PEYVANDI, Flora, MAHASANDANA, Chularatana, MALCOVATI, Massimo, TENCHINI, Maria Luisa

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Two new putative susceptibility loci for ADNFLE von Combi, Romina, Ferini-Strambi, Luigi, Montruccoli, Arianna, Bianchi, Vera, Malcovati, Massimo, Zucconi, Marco, Dalprà, Leda, Luisa Tenchini, Maria

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Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia von Asselta, Rosanna, Duga, Stefano, Spena, Silvia, Peyvandi, Flora, Castaman, Giancarlo, Malcovati, Massimo, Mannucci, Pier Mannuccio, Tenchini, Maria Luisa

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