Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.A233T
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F9

NM_000133.4:p.A233T

Associated Papers

Enhanced procoagulant activity of select hemophilia B causing factor IX variants with emicizumab.

Lee K et al.

Blood, 2024

38985830 (PubMed )
Supplement: BLOOD_BLD-2023-021944-mmc1.pdf

Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study.

Moghadam AA et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024

Molecular characterization of 16 hemophilia B families in Aragon, Spain.

Arias-Moreno X et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2013

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.

Mahajan A et al.

Human Mutation, 2007

Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing.

Karimipoor M et al.

Thrombosis Research, 2007

Molecular genotyping of the Italian cohort of patients with hemophilia B.

Belvini D et al.

Haematologica, 2005

Denaturing HPLC procedure for factor IX gene scanning.

Castaldo G et al.

Clinical Chemistry, 2003

Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations.

Li X et al.

Human Mutation, 2000

Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.

Attali O et al.

Thrombosis and Haemostasis, 1999

A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.

Hinks JL et al.

British Journal of Haematology, 1999

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