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

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 info...

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Detalles Bibliográficos
Autores principales: Liu, Wanlu, Shi, Xinwei, Li, Yuqi, Qiao, Fuyuan, Wu, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8659554/
https://www.ncbi.nlm.nih.gov/pubmed/34938549
http://dx.doi.org/10.1002/ccr3.5166