Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males) with MSUD from 8 unrelated Chinese Han famil...

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Detalles Bibliográficos
Autores principales: Fang, Xiaohua, Zhu, Xiaofan, Feng, Yin, Bai, Ying, Zhao, Xuechao, Liu, Ning, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460745/
https://www.ncbi.nlm.nih.gov/pubmed/34556729
http://dx.doi.org/10.1038/s41598-021-98357-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460745/
https://www.ncbi.nlm.nih.gov/pubmed/34556729
http://dx.doi.org/10.1038/s41598-021-98357-2

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