Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease

BACKGROUND: The natural history and genotype–phenotype correlation of Pelizaeus–Merzbacher disease (PMD) of Chinese patients has been rarely reported. METHOD: Patients who met the criteria for PMD were enrolled in our study. Genomic analysis was conducted by multiplex ligation probe amplification (M...

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Detalles Bibliográficos
Autores principales: Duan, Ruoyu, Ji, Haoran, Yan, Huifang, Wang, Junyu, Zhang, Yu, Zhang, Qian, Li, Dongxiao, Cao, Binbin, Gu, Qiang, Wu, Ye, Jiang, Yuwu, Li, Ming, Wang, Jingmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962489/
https://www.ncbi.nlm.nih.gov/pubmed/35346287
http://dx.doi.org/10.1186/s13023-022-02267-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962489/
https://www.ncbi.nlm.nih.gov/pubmed/35346287
http://dx.doi.org/10.1186/s13023-022-02267-z

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