Systematic molecular analysis of hemophilia A patients from Colombia
Author:
Affiliation:
1. Universidad Nacional de Colombia, Colombia
2. Universidad Nacional de Colombia, Colombia; Universidad Nacional de Colombia, Colombia; Universidad Nacional de Colombia, Colombia
Publisher
FapUNIFESP (SciELO)
Subject
Genetics,Molecular Biology
Link
http://www.scielo.br/pdf/gmb/v41n4/1415-4757-GMB-1678-4685-GMB-2017-0072.pdf
Reference50 articles.
1. Therapeutic management and costs of severe haemophilia A patients with inhibitors in Italy;Abbonizio F;Haemophilia,2014
2. A method and server for predicting damaging missense mutations;Adzhubei IA;Nat Methods,2010
3. Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A;Ahmed RP;Haematologica,2005
4. Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: Identification of seven novel mutations;Albanez S;Haemophilia,2011
5. Molecular genetics of coagulation factor VIII gene and hemophilia A;Antonarakis SE;Thromb Haemost,1995
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1. Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort;Life;2024-08-21
2. Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors;Hematology Reports;2023-02-16
3. Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia;Colombia Medica;2021-12-24
4. Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia;Genes;2021-11-18
5. Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing‐based technology;Haemophilia;2021-10-28
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