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Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis

OBJECTIVE: This study is a retrospective analysis of the prenatal genetic diagnosis results of 1408 foetuses at high risk of DMD/BMD to provide information for clinical genetic counselling. BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder characterized by skeletal and...

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Detalles Bibliográficos
Autores principales:	Hua, Chunxiao, Liu, Lina, Kong, Xiangdong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691095/ https://www.ncbi.nlm.nih.gov/pubmed/38041114 http://dx.doi.org/10.1186/s12920-023-01746-x

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