Nosicielstwo chorób genetycznych

Congenital thrombophilia – hypercoagulability, is a genetically determined tendency to develop blood clots. It is one of the main risk factors for venous thromboembolism.

Fragile X syndrome (FRAX) is associated with the occurrence of a dynamic mutation in the FMR1 gene, which results in inhibition of its expression and consequent lack of FMRP protein synthesis.