Genetic heterogeneity in partial adenosine deaminase deficiency.

Eitemau Tebyg

• Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.
  gan: Hirschhorn, R, et al.
  Cyhoeddwyd: (1986)
• Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients.
  gan: Hirschhorn, R, et al.
  Cyhoeddwyd: (1981)
• Hot spot mutations in adenosine deaminase deficiency.
  gan: Hirschhorn, R, et al.
  Cyhoeddwyd: (1990)
• Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child.
  gan: Hirschhorn, R, et al.
  Cyhoeddwyd: (1980)
• Erythrocyte Adenosine Deaminase Deficiency without Immunodeficiency: EVIDENCE FOR AN UNSTABLE MUTANT ENZYME
  gan: Hirschhorn, Rochelle, et al.
  Cyhoeddwyd: (1979)