Molecular characterization of two hypofibrinogenemic patients associated with a novel FGG IVS6+23T>A substitution and a previously reported FGB IVS6‐10_16delTTTG deletion-Reference-Cited by-同舟云学术

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Molecular characterization of two hypofibrinogenemic patients associated with a novel FGG IVS6+23T>A substitution and a previously reported FGB IVS6‐10_16delTTTG deletion

Published:2020-03-23 Issue:4 Volume:26 Page:
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Amri Yessine¹^ORCID,Dabboubi Rym¹,Mghaieth Fathia²,Zili Mohamed³,Messaoud Taieb¹,Casini Alessandro⁴^ORCID,De Moerloose Philippe⁴,Toumi Nour El Houda⁵⁶

Affiliation:

1. Biochemistry Laboratory (LR 00SP03) Bechir Hamza Children’s Hospital Tunis Tunisia

2. Service of Cardiology Rabta University Hospital Tunis Tunisia

3. Medical Biology Laboratory Habib Thameur’s Hospital Tunis Tunisia

4. Division of Angiology and Haemostasis University Hospitals and Faculty of Medicine of Geneva Geneva Switzerland

5. Hematology Laboratory Bechir Hamza Children’s Hospital Tunis Tunisia

6. Department of Clinical Biology A Faculty of Pharmacy University of Monastir Monastir Tunisia

Funder

Ministry of Scientific Research and Technology and Competence Development

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.13974

Reference10 articles.

1. The molecular mechanisms of congenital hypofibrinogenaemia

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

3. Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization

4. A Database for Human Fibrinogen Variants

5. Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen ?-chain gene as a novel mechanism for congenital afibrinogenaemia

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients;Biomedical Papers;2024-07-29

2. Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and Thrombosis;Journal of Clinical Medicine;2022-02-18

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