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Journal Articles

Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia

Rosanna Asselta, Stefano Duga, Silvia Spena, Flora Peyvandi, Giancarlo Castaman, Massimo Malcovati, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Blood (2004) 103 (8): 3051–3054.

https://doi.org/10.1182/blood-2003-10-3725

Published: 2004

Journal Articles

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 analysis of the newly identified missense mutations

Maria Claudia Montefusco, Stefano Duga, Rosanna Asselta, Massimo Malcovati, Flora Peyvandi, Elena Santagostino, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Blood (2003) 102 (9): 3210–3216.

https://doi.org/10.1182/blood-2003-03-0922

Published: 2003

Journal Articles

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

Stefano Duga, Maria Claudia Montefusco, Rosanna Asselta, Massimo Malcovati, Flora Peyvandi, Elena Santagostino, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Blood (2003) 101 (1): 173–177.

https://doi.org/10.1182/blood-2002-06-1928

Published: 2003

Journal Articles

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bβ-chain gene causing activation of cryptic splice sites

Silvia Spena, Stefano Duga, Rosanna Asselta, Massimo Malcovati, Flora Peyvandi, Maria Luisa Tenchini

Blood (2002) 100 (13): 4478–4484.

https://doi.org/10.1182/blood-2002-06-1647

Published: 2002

Journal Articles

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

Rosanna Asselta, Stefano Duga, Silvia Spena, Elena Santagostino, Flora Peyvandi, Gavino Piseddu, Roberto Targhetta, Massimo Malcovati, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Blood (2001) 98 (13): 3685–3692.

https://doi.org/10.1182/blood.V98.13.3685

Published: 2001

Journal Articles

Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation

Rosanna Asselta, Stefano Duga, Tatjana Simonic, Massimo Malcovati, Elena Santagostino, Paul L. F. Giangrande, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Blood (2000) 96 (7): 2496–2500.

https://doi.org/10.1182/blood.V96.7.2496

Published: 2000

Journal Articles

Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion

Stefano Duga, Rosanna Asselta, Elena Santagostino, Sirous Zeinali, Tatjana Simonic, Massimo Malcovati, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Blood (2000) 95 (4): 1336–1341.

https://doi.org/10.1182/blood.V95.4.1336.004k16_1336_1341

Published: 2000

NARROW

Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia

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 analysis of the newly identified missense mutations

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bβ-chain gene causing activation of cryptic splice sites

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation

Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion

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ASH Publications

American Society of Hematology

Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia

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 analysis of the newly identified missense mutations

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bβ-chain gene causing activation of cryptic splice sites

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation

Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion

Email alerts

ASH Publications

American Society of Hematology

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