Articles with "partial recessive" as a keyword



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A purely quantitative form of partial recessive IFN‐&ggr;R2 deficiency caused by mutations of the initiation or second codon

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Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddy275

Abstract: &NA; Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by clinical disease caused by weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette‐Guérin vaccines, in otherwise healthy individuals. All known genetic etiologies disrupt interferon… read more here.

Keywords: ifn ggr; partial recessive; ggr; ggr deficiency ... See more keywords