Article
A frequent nonsense mutation in exon 1 across certain HLA-A and -B alleles in leukocytes of patients with acquired aplastic anemia.
Haematologica - 1 Jun 2021
Mizumaki Hiroki, Hosomichi Kazuyoshi, Hosokawa Kohei, Yoroidaka Takeshi, Imi Tatsuya, Zaimoku Yoshitaka, Katagiri Takamasa, Anh Thi Nguyen Mai, Cao Tran Dung, Ibrahim Yousef Elbadry Mahmoud, Chonabayashi Kazuhisa, Yoshida Yoshinori, Takamatsu Hiroyuki, Ozawa Tatsuhiko, Azuma Fumihiro, Kishi Hiroyuki, Fujii Yoichi, Ogawa Seishi, Tajima Atsushi, Nakao Shinji
Abstract excerpt
Leukocytes that lack HLA allelic expression are frequently detected in patients with acquired aplastic anemia (AA) who respond to immunosuppressive therapy (IST), although the exact mechanisms underlying the HLA loss and HLA allele repertoire likely to acquire loss-of-function mutations are unknown. We identified a common nonsense mutation at position 19 (c.19C>T, p.R7X) in exon 1 (Exon1mut) of different HLA-A...
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