Comprehensive Screening of Genetic Variants in the Coding Region of <i>F8</i> in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort

Comprehensive Screening of Genetic Variants in the Coding Region of <i>F8</i> in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort

Hemophilia A is an X-linked disorder characterized by quantitative deficiency of coagulation factor VIII (FVIII) caused by pathogenic variants in the factor 8 (<i>F8</i>) gene. Our study’s primary objective was to identify genetic variants within the exonic region of <i>F8</i>...

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Bibliographic Details
Main Authors: Samuel Sarmiento Doncel, Ronald Guillermo Peláez, Pablo Lapunzina, Fernando F. Corrales-Medina, Gina Alejandra Díaz Mosquera, Santiago Bonanad, Javier Mauricio Cortes, Mario Cazalla, Natalia Gallego, Felipe Querol-Giner, Jair Tenorio, José A. López Guerrero
Format: Article
Language:English
Published: MDPI AG 2024-08-01
Series:Life
Subjects:
hemophilia A
FVIII
mutation
inhibitors
variants
whole sequence exome
Online Access:https://www.mdpi.com/2075-1729/14/8/1041

Internet

https://www.mdpi.com/2075-1729/14/8/1041

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