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A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord

Crossref DOI link: https://doi.org/10.1038/s10038-019-0648-7

Published Online: 2019-08-06

Published Print: 2019-10

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

Authors

Song, Chengyuan

Peng, Linliu

Wang, Shengjun

Liu, Yiming
Funding

Funding for this research was provided by:

National Natural Science Foundation of China (81500683, 81771373, 81771373)

Natural Science Foundation of Shandong Province (ZR2019PH092)
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Text and Data Mining valid from 2019-08-06

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Article History

Received: 24 December 2018

Revised: 11 July 2019

Accepted: 13 July 2019

First Online: 6 August 2019

Compliance with ethical standards

:

: The authors declare that they have no conflict of interest.

: We obtained fully informed written consent from adult subject in this study and publication of his clinical data.

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