Hot spot mutations in adenosine deaminase deficiency.

Antzeko izenburuak

• Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
  nork: Hirschhorn, R, et al.
  Argitaratua: (1989)
• Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.
  nork: Hirschhorn, R, et al.
  Argitaratua: (1986)
• Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
  nork: Tzall, S, et al.
  Argitaratua: (1989)
• Genetic heterogeneity in partial adenosine deaminase deficiency.
  nork: Hirschhorn, R, et al.
  Argitaratua: (1983)
• Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child.
  nork: Hirschhorn, R, et al.
  Argitaratua: (1980)