Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

Nature communications Volume 12 Issue 1 published_at 2021-11-24
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Title
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
Creator
Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, Mishima H, Kinoshita A, Mizushima T, Hamada S, Hamada K, Kawamoto N, Kadowaki S, Honda Y, Izawa K, Nishikomori R, Tsumura M, Yamashita Y, Tamura S, Orimo T, Ozasa T, Kato T, Sasaki I, Fukuda-Ohta Y, Wakaki-Nishiyama N, Inaba Y, Kunimoto K, Okada S, Taketani T, Nakanishi K, Murata S, Yoshiura KI, Kaisho T.
Source Title
Nature communications
Volume 12
Issue 1
Journal Identifire
EISSN 2041-1723
Language
eng
Resource Type journal article
Publisher
Nature Pub. Group
Date of Issued 2021-11-24
権利関係(リンク) Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Access Rights metadata only access
Relation
[DOI] 10.1038/s41467-021-27085-y
[PMID] 34819510