Missense or splicing mutation? The case of a fibrinogen B-chain mutation causing severe hypofibrinogenemia (original) (raw)

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

Dr. Munira Borhany

Thrombosis and Haemostasis, 2014

View PDFchevron_right

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

Angelo Bianchi

Blood, 2004

View PDFchevron_right

A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype

Ingrid Škorňová

Biomedicines, 2020

View PDFchevron_right

A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype

Peter Kubisz

Biomedicines

View PDFchevron_right

The molecular basis of quantitative fibrinogen disorders

Rosanna Asselta

Journal of Thrombosis and Haemostasis, 2006

View PDFchevron_right

Rare inherited disorders of fibrinogen

Suchitra Acharya

Haemophilia, 2008

View PDFchevron_right

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management

Peter Kubisz

Diagnostics

View PDFchevron_right

Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage

Stephen Brennan

British Journal of Haematology, 1997

View PDFchevron_right

Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders

Peter Kubisz

International Journal of Molecular Sciences

View PDFchevron_right

Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications

Sami Kosai Mohamed Kammoun

Clinica Chimica Acta, 2016

View PDFchevron_right

Characterisation of a novel nonsense mutation in FGG (Fibrinogen Poznan) causing hypofibrinogenaemia with a mild bleeding tendency

Krystyna Zawilska, A. Undas

Thrombosis and Haemostasis, 2010

View PDFchevron_right

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob ‘A’

Philippe Moerloose

Thrombosis and Haemostasis, 2010

View PDFchevron_right

Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations

Teresa Iwaniec

Thrombosis Research

View PDFchevron_right

Fibrinogen angers with a new deletion (γ GVYYQ 346‐350) causes hypofibrinogenemia with hepatic storage

Paul Cales

Journal of Thrombosis and Haemostasis, 2007

View PDFchevron_right

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

Angelika Batorova

Journal of Medical Genetics, 2005

View PDFchevron_right

Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia

Stephen Brennan

Liver International, 2010

View PDFchevron_right

Fibrinogen Šumperk II: Dysfibrinogenemia in an individual with two coding mutations

J. Suttnar

American Journal of Hematology, 2012

View PDFchevron_right

Analysis of fibrinogen genes in patients with congenital afibrinogenemia

G. Uzan

Biochemical and Biophysical Research Communications, 1984

View PDFchevron_right

Fibrinogen Brescia

Stephen Brennan

The American Journal of Pathology, 2000

View PDFchevron_right

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

Manuela Platé

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007

View PDFchevron_right

Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and Thrombosis

Ingrid Škorňová

Journal of Clinical Medicine

View PDFchevron_right

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

Peter Kubisz

Seminars in Thrombosis and Hemostasis, 2016

View PDFchevron_right

Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime

Adriana Soares

European Journal of Case Reports in Internal Medicine, 2020

View PDFchevron_right

Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene

Kanjaksha Ghosh

Haematologica, 2006

View PDFchevron_right

Fibrinogen Milano XIII (Aα 19 Arg→Gly)

Bernhard Lämmle

Thrombosis Research, 1999

View PDFchevron_right

Fibrinogen Maracaibo: Hypo-Dysfibrinogenemia Caused by a Heterozygous Mutation in the Gen that Encodes for the Fibrinogen Aα Chain (G.1194G>A: P.Gly13>Glu) with Diminished Thrombin Generation

Arlette Ruiz-Saez

Journal of Blood Disorders & Transfusion, 2014

View PDFchevron_right