Výsledky vyhledávání - "Noriko Mitsuki"

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

Autor: Nobuo Kanazawa, Kohsuke Imai, Tomohiro Morio, Osamu Ohara, Koh-ichiro Yoshiura, Masami Inoue, Chizuko Inoue, Masaharu Tamaki, Yuka Nakazawa, Kohei Higuchi, Osamu Kondo, Fukumi Furukawa, Hiroyuki Mishima, Tomoo Ogi, Shinobu Tamura, Kenzo Takahashi, Noriko Mitsuki, Ryoko Awazawa

Publikováno v: Clinical immunology (Orlando, Fla.). 160(2)

We herein describe a case of a 17-year-old boy with intractable common warts, short stature, microcephaly and slowly-progressing pancytopenia. Simultaneous quantification of T-cell receptor recombination excision circles (TREC) and immunoglobulin κ-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cab649ae631d655b1319c0c82c76fed
https://pubmed.ncbi.nlm.nih.gov/26172957

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