Article
Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy.
Journal of clinical laboratory analysis - 1 Apr 2020
Xu Ying, Song Tingting, Li Yu, Guo Fenfen, Jin Xin, Cheng Lu, Zheng Jiao, Li Chunyan, Zhang Yingqi, Chen Biliang, Zhang Jianfang
Abstract excerpt
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD sequence studies fail to found the causative alteration in two cases. This study intends to evaluate the disease-causing mutations and explains the correlation genotype-phenotype. METHODS: The mRNA analysis and Long-range PCR with...
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