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Publications by Maria Luisa Tenchini

Congenital Afibrinogenemia: First Identification of Splicing Mutations in the Fibrinogen Bbeta -Chain Gene Causing Activation of Cryptic Splice Sites

English

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Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia?

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Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

Seminars in Thrombosis and Hemostasis

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Mechanism for Cryptic Splice Site Activation During Pre-mRNA Splicing.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

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Congenital Afibrinogenemia

Annals of Saudi Medicine

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Myosin Light-Chain 1/3 Gene Alternative Splicing: Cis Regulation Is Based Upon a Hierarchical Compatibility Between Splice Sites.

Molecular and Cellular Biology

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New POMT2 Mutations Causing Congenital Muscular Dystrophy: Identification of a Founder Mutation

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Disease-Causing Mutations in Proteins: Structural Analysis of the CYP1b1 Mutations Causing Primary Congenital Glaucoma in Humans

Biophysical Journal

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Differential Regulation of Fibrinogen Γ Chain Splice Isoforms by Interleukin-6

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Identification of a Bidirectional Splicing Enhancer: Differential Involvement of SR Proteins in 5′ or 3′ Splice Site Activation

Molecular and Cellular Biology

Molecular Biology

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