Article
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.
Haematologica - 1 Oct 2013
Hirata Osamu, Okada Satoshi, Tsumura Miyuki, Kagawa Reiko, Miki Mizuka, Kawaguchi Hiroshi, Nakamura Kazuhiro, Boisson-Dupuis Stéphanie, Casanova Jean-Laurent, Takihara Yoshihiro, Kobayashi Masao
Abstract excerpt
Heterozygosity for dominant-negative STAT1 mutations underlies autosomal dominant Mendelian susceptibility to mycobacterial diseases. Mutations conferring Mendelian susceptibility to mycobacterial diseases have been identified in the regions of the STAT1 gene encoding the tail segment, DNA-binding domain and SH2 domain. We describe here a new heterozygous mutation, Y701C, in a Japanese two-generation multiplex...
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