A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis

Advances in next-generation sequencing technology have identified many genes responsible for inborn errors of immunity (IEI). However, there is still room for improvement in the efficiency of genetic diagnosis. Recently, RNA sequencing and proteomics using peripheral blood mononuclear cells (PBMCs)...

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Detalles Bibliográficos
Autores principales: Sakura, Fumiaki, Noma, Kosuke, Asano, Takaki, Tanita, Kay, Toyofuku, Etsushi, Kato, Kentaro, Tsumura, Miyuki, Nihira, Hiroshi, Izawa, Kazushi, Mitsui-Sekinaka, Kanako, Konno, Ryo, Kawashima, Yusuke, Mizoguchi, Yoko, Karakawa, Shuhei, Hayakawa, Seiichi, Kawaguchi, Hiroshi, Imai, Kohsuke, Nonoyama, Shigeaki, Yasumi, Takahiro, Ohnishi, Hidenori, Kanegane, Hirokazu, Ohara, Osamu, Okada, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Biological, Health, and Medical Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10109033/
https://www.ncbi.nlm.nih.gov/pubmed/37077884
http://dx.doi.org/10.1093/pnasnexus/pgad104

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