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Article

Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach.

BMC medical genomics - 22 Nov 2021

Zhao Ganye, Wang Xiaofeng, Liu Lina, Dai Peng, Kong Xiangdong

Abstract excerpt

BACKGROUND: Relative haplotype dosage (RHDO) approach has been applied in noninvasive prenatal diagnosis (NIPD) of Duchenne muscular dystrophy (DMD). However, the RHDO procedure is relatively complicated and the parental haplotypes need to be constructed. Furthermore, it is not suitable for the diagnosis of de novo mutations or mosaicism in germ cells. Here, we investigated NIPD of DMD using a relative mutation...

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PMID: 34802424
DOI: 10.1186/s12920-021-01128-1
PMCID: PMC8607717

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