Mosaicism in carrier of Duchenne muscular dystrophy mutation - Implication for prenatal diagnosis

• Príomhchruthaitheoirí: Linh Thuy Dinh (Údar), Duc Hinh Nguyen (Údar), Long Hoang Luong (Údar), Phuong Thi Le (Údar), Tuan Pham Le-Anh (Údar), Dat Quoc Tran (Údar), Thinh Huy Tran (Údar), The-Hung Bui (Údar), Thanh Van Ta (Údar), Van Khanh Tran (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Elsevier, 2018-12-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

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...