(Q47442945)

16 January 2018

title

Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene (English)

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16 January 2018

congenital afibrinogenemia

main subject

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2

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16 January 2018

Stefano Duga

3

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16 January 2018

Flora Peyvandi

5

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16 January 2018

Pier Mannuccio Mannucci

6

object named as

Pier Mannuccio Mannucci

1 reference

16 January 2018

Silvia Spena

1

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16 January 2018

Massimo Malcovati

4

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16 January 2018

Maria Luisa Tenchini

7

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16 January 2018

publication date

1 October 2003

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16 January 2018

Biochimica et Biophysica Acta

published in

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16 January 2018

volume

1639

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16 January 2018

issue

2

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16 January 2018

page(s)

87-94

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16 January 2018

Rare coagulation deficiencies.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

The acute phase response: an overview

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Fibrinogen and fibrin

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Identification of simultaneous mutation of fibrinogen alpha chain and protein C genes in a Japanese kindred.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Congenital afibrinogenemia

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Protein misfolding and degradation in genetic diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Hepatic endoplasmic reticulum storage diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

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%2FS0925-4439%2803%2900125-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale).

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2803%2900125-X

7 January 2021

10.1016/S0925-4439(03)00125-X

Identifiers

DOI

1 reference

16 January 2018

1 reference

16 January 2018