Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion (Q24319923)

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11 January 2020

title

Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion (English)

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11 January 2020

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Fibrinogen beta chain

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Fibrinogen alpha chain

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Fibrinogen gamma chain

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protein secretion

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1

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11 January 2020

Rosanna Asselta

2

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11 January 2020

Marta Spreafico

4

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11 January 2020

Sharmila Fagoonee

5

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11 January 2020

Flora Peyvandi

6

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11 January 2020

Stefano Duga

8

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11 January 2020

author name string

Silvia Spena

3

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11 January 2020

Maria Luisa Tenchini

7

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language of work or name

English

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publication date

3 August 2008

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Blood Cells, Molecules and Diseases

11 January 2020

published in

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11 January 2020

volume

41

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issue

3

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page(s)

292-297

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The identification of a DNA polymorphism of the alpha fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter

11 January 2020

cites work

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

The molecular mechanisms of congenital hypofibrinogenaemia

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Gamma371 Thr-->Ile substitution in the fibrinogen gammaD domain causes hypofibrinogenaemia

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Fibrinogen Structure and Fibrin Clot Assembly

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

The assembly of human fibrinogen. The role of the amino-terminal and coiled-coil regions of the three chains in the formation of the alphagamma and betagamma heterodimers and alphabetagamma half-molecules

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA)

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Sustained correction of the bleeding time in an afibrinogenaemic patient after infusion of fresh frozen plasma

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7 January 2021

Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen v

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7 January 2021

The molecular basis of quantitative fibrinogen disorders.

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7 January 2021

A novel fibrinogen variant--Praha I: hypofibrinogenemia associated with gamma Gly351Ser substitution.

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

A database for human fibrinogen variants

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7 January 2021

Fibrinogen Biosynthesis

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Fibrinogen and fibrin

1 reference

https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation

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https://api.crossref.org/works/10.1016/J.BCMD.2008.06.004

7 January 2021

10.1016/J.BCMD.2008.06.004

Identifiers

DOI

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11 January 2020

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