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

Impaired proteasome activity due to genetic variants of certain subunits might lead to proteasome-associated autoinflammatory syndromes (PRAAS). Here we report a de novo heterozygous missense variant of the PSMB9 proteasome subunit gene in two unrelated Japanese infants resulting in amino acid subst...

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Detalles Bibliográficos
Autores principales: Kanazawa, Nobuo, Hemmi, Hiroaki, Kinjo, Noriko, Ohnishi, Hidenori, Hamazaki, Jun, Mishima, Hiroyuki, Kinoshita, Akira, Mizushima, Tsunehiro, Hamada, Satoru, Hamada, Kazuya, Kawamoto, Norio, Kadowaki, Saori, Honda, Yoshitaka, Izawa, Kazushi, Nishikomori, Ryuta, Tsumura, Miyuki, Yamashita, Yusuke, Tamura, Shinobu, Orimo, Takashi, Ozasa, Toshiya, Kato, Takashi, Sasaki, Izumi, Fukuda-Ohta, Yuri, Wakaki-Nishiyama, Naoko, Inaba, Yutaka, Kunimoto, Kayo, Okada, Satoshi, Taketani, Takeshi, Nakanishi, Koichi, Murata, Shigeo, Yoshiura, Koh-ichiro, Kaisho, Tsuneyasu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613290/
https://www.ncbi.nlm.nih.gov/pubmed/34819510
http://dx.doi.org/10.1038/s41467-021-27085-y

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