Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

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 d...

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Main Authors: Hirata, Osamu, Okada, Satoshi, Tsumura, Miyuki, Kagawa, Reiko, Miki, Mizuka, Kawaguchi, Hiroshi, Nakamura, Kazuhiro, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Takihara, Yoshihiro, Kobayashi, Masao
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2013
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3789471/
https://ncbi.nlm.nih.gov/pubmed/23585529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2013.083741
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