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Journal of Neurology

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01-10-2013 | Letter to the Editors

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus

Authors: Kazuo Yamashiro, Ryota Tanaka, Yuanzhe Li, Michitaka Mikasa, Nobutaka Hattori

Published in: Journal of Neurology | Issue 10/2013

Excerpt

Dear Sirs, …

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Lee-Kirsch MA, Chowdhury D, Harvey S et al (2007) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med (Berl) 85:531–537CrossRef

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Sugiura K, Takeichi T, Kono M et al (2012) Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3′-repair exonuclease 1. J Invest Dermatol 132:2855–2857PubMedCrossRef

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Title: A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus
Authors: Kazuo Yamashiro
Ryota Tanaka
Yuanzhe Li
Michitaka Mikasa
Nobutaka Hattori
Publication date: 01-10-2013
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 10/2013
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-013-7084-y

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A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus

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