Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |