The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies

Background/Aim. Duchenne muscular dystrophy (MD) and Becker MD are caused by mutations in the gene for dystrophin (DMD). They are X chromosome-linked recessive diseases where males are affected, and females are healthy carriers of the mutation in most cases. It is estimated that 2/3 of mothers of Du...

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Bibliographic Details
Main Authors: Maksić Jasmina, Maksimović Nela, Rasulić Lukas, Milankov Olgica, Marjanović Ana, Cvetković Dragana, Rakočević-Stojanović Vidosava, Novaković Ivana
Format: Article
Language:English
Published: Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade 2023-01-01
Series:Vojnosanitetski Pregled
Subjects:
genes
genetic testing
muscular dystrophies
mutation
prenatal diagnosis
women
Online Access:https://doiserbia.nb.rs/img/doi/0042-8450/2023/0042-84502200030M.pdf
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