Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

BACKGROUND: Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia. Early screening and diagnosis are important. The mutation spectrum...

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Detalles Bibliográficos
Autores principales: Wang, Chao, Liu, Yang, Cai, Fengying, Zhang, Xinjie, Xu, Xiaowei, Li, Yani, Zou, Qianqian, Zheng, Jie, Zhang, Yuqin, Guo, Wei, Cai, Chunquan, Shu, Jianbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284048/
https://www.ncbi.nlm.nih.gov/pubmed/32198913
http://dx.doi.org/10.1002/mgg3.1221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284048/
https://www.ncbi.nlm.nih.gov/pubmed/32198913
http://dx.doi.org/10.1002/mgg3.1221

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