Article
A new HLA-C allele with an alternative splice site in exon 3: HLA-C*03:23N.
HLA - 1 Jun 2020
Shimizu Marie, Kuroda Yukari, Uchida Miyuki, Takada Shinnosuke, Kamada Hiromi, Takahashi Daisuke, Nakajima Fumiaki, Miyata Shigeki, Igarashi Shigeru, Satake Masahiro
Abstract excerpt
We identified a probable new null HLA-C allele, C*03:23N, which originated from C*03:04:01:02, but does not react with Cw3 antibodies. This allele was identified by sequence analysis, which indicated that a single G-to-A substitution at position 406 in exon 3 created a null allele under a new mechanism: the mutation changes the position of the intron 2-exon 3 splice site to be further into exon 3, leading to a...
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