The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
about
Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Genetics of primary ovarian insufficiency.Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations.Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.
P2860
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
The first Japanese case of leu ...... heterozygous AARS2 mutations.
@en
The first Japanese case of leu ...... heterozygous AARS2 mutations.
@nl
type
label
The first Japanese case of leu ...... heterozygous AARS2 mutations.
@en
The first Japanese case of leu ...... heterozygous AARS2 mutations.
@nl
prefLabel
The first Japanese case of leu ...... heterozygous AARS2 mutations.
@en
The first Japanese case of leu ...... heterozygous AARS2 mutations.
@nl
P2093
P2860
P356
P1476
The first Japanese case of leu ...... heterozygous AARS2 mutations.
@en
P2093
Hirofumi Yamashita
Keiko Shimojima
Kengo Uemura
Kenji Yoshinaga
Megumi Asada-Utsugi
Mio Hamatani
Naomichi Matsumoto
Naoto Jingami
Norihito Uemura
Ryosuke Takahashi
P2860
P2888
P304
P356
10.1038/JHG.2016.64
P577
2016-06-02T00:00:00Z