Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition

Author:

Ferrarese Mattia1,Baroni Marcello1,Della Valle Patrizia2,Spiga Ivana3,Poloniato Antonella4,D'Angelo Armando2,Pinotti Mirko1,Bernardi Francesco1,Branchini Alessio1ORCID

Affiliation:

1. Department of Life Sciences and Biotechnology University of Ferrara Ferrara Italy

2. Coagulation Service and Thrombosis Research Unit San Raffaele Scientific Institute Milan Italy

3. Clinical Molecular Biology Laboratory IRCCS San Raffaele Hospital Milan Italy

4. Neonatology Unit, Mother‐Child Department IRCCS San Raffaele Hospital Milan Italy

Funder

Università degli Studi di Ferrara

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Reference41 articles.

1. Prophylaxis in real life scenarios;Fischer K;Haemophilia,2014

2. Genetics of haemostasis;Goodeve AC;Haemophilia,2012

3. Haemophilias A and B;Bolton-Maggs PH;Lancet,2003

4. Factor VII deficiency and the FVII mutation database;McVey JH;Hum Mutat,2001

5. Molecular analysis of the genotype-phenotype relationship in factor X deficiency;Millar DS;Hum Genet,2000

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