Crossmark

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Crossref DOI link: https://doi.org/10.1186/s13023-020-01632-0

Published Online: 2021-01-07

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Liang, Lili

Shuai, Ruixue

Yu, Yue

Qiu, Wenjuan

Shen, Linghua

Wu, Shengnan

Wei, Haiyan

Chen, Yongxing

Yang, Chiju

Xu, Peng

Chen, Xigui

Zou, Hui

Feng, Jizhen

Niu, Tingting

Hu, Haili

Ye, Jun

Zhang, Huiwen

Lu, Deyun

Gong, Zhuwen

Zhan, Xia

Ji, Wenjun

Yu, Yongguo

Gu, Xuefan

Han, Lianshu https://orcid.org/0000-0003-4209-5119
Funding

Funding for this research was provided by:

the National Natural Science Foundation of China (81600701)

the National Key Research and Development Program of China (2016YFC0901505)
License Information

Text and Data Mining valid from 2021-01-07

Version of Record valid from 2021-01-07
More Information

Article History

Received: 3 May 2020

Accepted: 27 November 2020

First Online: 7 January 2021

Ethics approval and consent to participate

: This study was approved by the Ethics Committee of Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine ( Approval number: XHEC-D-2020-024).

: Participants provided written informed consent.

: The authors declare that there is no conflict of interest about this article.

Document is current

Any future updates will be listed below