The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T.
Hamatani M, et al. Among authors: uemura n, uemura k.
J Hum Genet. 2016 Oct;61(10):899-902. doi: 10.1038/jhg.2016.64. Epub 2016 Jun 2.
J Hum Genet. 2016.
PMID: 27251004
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