The Identification of a Novel Splicing Mutation in the DMD Gene of a Chinese Family.
Clinical Case Reports(2021)
摘要
The proband is a five-year-old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices.
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关键词
c.2293-1G>C,DMD gene,minigene,splicing mutation
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