A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
about
Aicardi-Goutières syndrome is caused by IFIH1 mutations.STING-mediated DNA sensing promotes antitumor and autoimmune responses to dying cells.Human disease phenotypes associated with mutations in TREX1.Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.A synonymous variant in TREX1 is associated with systemic sclerosis and severe digital ischaemia.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
P2860
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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@zh-my
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@zh-sg
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name
A nationwide survey of Aicardi ...... esions: Japanese cohort study.
@en
A nationwide survey of Aicardi ...... esions: Japanese cohort study.
@nl
type
label
A nationwide survey of Aicardi ...... esions: Japanese cohort study.
@en
A nationwide survey of Aicardi ...... esions: Japanese cohort study.
@nl
prefLabel
A nationwide survey of Aicardi ...... esions: Japanese cohort study.
@en
A nationwide survey of Aicardi ...... esions: Japanese cohort study.
@nl
P2093
P2860
P50
P356
P1433
P1476
A nationwide survey of Aicardi ...... esions: Japanese cohort study.
@en
P2093
Akiko Kawakita
Haruo Shintaku
Hitoshi Osaka
Itaru Toyoshima
Kazuko Hasegawa
Kazuyuki Nakamura
Makoto Funatsuka
Manami Akasaka
Masahiro Kikuchi
P2860
P304
P356
10.1093/RHEUMATOLOGY/KET372
P577
2013-12-03T00:00:00Z