Article

The identification of a novel splicing mutation in the DMD gene of a Chinese family

2021-10-01

Abstract excerpt

The Duchenne Muscular Dystrophy (DMD) gene variants are associated with the disease phenotypes. The pathogenic mutation, c.2293-1G>C, was detected in DMD gene in the proband and the fetus, which has not been reported in the literature.The minigene expression in vitro confirmed that c.2293-1G>C is responsible of aberrant splicing.

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Literature Corpus work: ea5e0983-4219-5018-9013-809dad73fb6c
DOI: 10.22541/au.163308103.31867516/v1

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