LINE-1-mediated AluYa5 insertion underlying complete autosomal recessive IFN-γR1 deficiency

Samankaltaisia teoksia

• Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation
  Tekijä: Şeyhan Kutluǧ, et al.
  Julkaistu: (2019-09-01)
• Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation
  Tekijä: Kutluǧ, Şeyhan, et al.
  Julkaistu: (2019)
• Exonization of AluYa5 in the human ACE gene requires mutations in both 3′ and 5′ splice sites and is facilitated by a conserved splicing enhancer
  Tekijä: Lei, Haixin, et al.
  Julkaistu: (2005)
• Mendelian susceptibility to mycobacterial disease: 2014–2018 update
  Tekijä: Rosain, Jérémie, et al.
  Julkaistu: (2018)
• IFN-γ and CD25 drive distinct pathological features during hemophagocytic lymphohistiocytosis
  Tekijä: Humblet-Baron, Stéphanie, et al.
  Julkaistu: (2018)