Mosaicism in carrier of Duchenne muscular dystrophy mutation – Implication for prenatal diagnosis
Objective: Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing is required for all female family members. However, there are cases mutation analysis cannot detect any mutation due to a phenomenon called mosaicism. The ca...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2018-12-01
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Series: | Taiwanese Journal of Obstetrics & Gynecology |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455918302432 |