A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

京都大学 === 0048 === 新制・課程博士 === 博士(医学) === 甲第18135号 === 医博第3855号 === 新制||医||1001(附属図書館) === 30993 === 京都大学大学院医学研究科医学専攻 === (主査)教授山田亮, 教授三森経世, 教授中畑龍俊 === 学位規則第4条第1項該当 === Doctor of Medical Science === Kyoto University === DGAM...

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Bibliographic Details
Main Author:	Abe, Junya
Other Authors:	三森, 経世
Format:	Doctoral Thesis
Language:	English
Published:	Kyoto University 2014
Subjects:	Aicardi-Goutières syndrome TREX1 SAMHD1 dominant-type mosaicism chilblain autoimmunity 490
Online Access:	http://hdl.handle.net/2433/188647

id	ndltd-kyoto-u.ac.jp-oai-repository.kulib.kyoto-u.ac.jp-2433-188647
record_format	oai_dc
spelling	ndltd-kyoto-u.ac.jp-oai-repository.kulib.kyoto-u.ac.jp-2433-1886472021-09-06T05:10:40Z A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study 本邦におけるAicardi-Goutieres症候群の全国調査の結果、TREX1遺伝子優性型変異と凍瘡症状に強い関連性を認めた Abe, Junya 三森, 経世中畑, 龍俊阿部, 純也アベ, ジュンヤ Aicardi-Goutières syndrome TREX1 SAMHD1 dominant-type mosaicism chilblain autoimmunity 490 京都大学 0048 新制・課程博士博士(医学) 甲第18135号医博第3855号新制\|\|医\|\|1001(附属図書館) 30993 京都大学大学院医学研究科医学専攻 (主査)教授山田亮, 教授三森経世, 教授中畑龍俊学位規則第4条第1項該当 Doctor of Medical Science Kyoto University DGAM 2014-06-26T08:06:20Z 2014-06-26T08:06:20Z 2014-03-24 2014-03-24 doctoral thesis Thesis or Dissertation http://hdl.handle.net/2433/188647 14301甲第18135号 10.14989/doctor.k18135 14301 eng 学位規則第9条第2項により要約公開 application/pdf Kyoto University 京都大学
collection	NDLTD
language	English
format	Doctoral Thesis
sources	NDLTD
topic	Aicardi-Goutières syndrome TREX1 SAMHD1 dominant-type mosaicism chilblain autoimmunity 490
spellingShingle	Aicardi-Goutières syndrome TREX1 SAMHD1 dominant-type mosaicism chilblain autoimmunity 490 Abe, Junya A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
description	京都大学 === 0048 === 新制・課程博士 === 博士(医学) === 甲第18135号 === 医博第3855号 === 新制\|\|医\|\|1001(附属図書館) === 30993 === 京都大学大学院医学研究科医学専攻 === (主査)教授山田亮, 教授三森経世, 教授中畑龍俊 === 学位規則第4条第1項該当 === Doctor of Medical Science === Kyoto University === DGAM
author2	三森, 経世
author_facet	三森, 経世 Abe, Junya
author	Abe, Junya
author_sort	Abe, Junya
title	A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
title_short	A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
title_full	A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
title_fullStr	A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
title_full_unstemmed	A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
title_sort	nationwide survey of aicardi-goutieres syndrome patients identifies a strong association between dominant trex1 mutations and chilblain lesions: japanese cohort study
publisher	Kyoto University
publishDate	2014
url	http://hdl.handle.net/2433/188647
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A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

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