Author:
Arredondo-Vega Francisco X.,Santisteban Ines,Daniels Shannon,Toutain Stephan,Hershfield Michael S.
Subject
Genetics(clinical),Genetics
Reference56 articles.
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3. Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency;Arredondo-Vega;J Clin Invest,1990
4. Correct splicing despite mutation of the invariant first nucleotide of a 5′ splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency;Arredondo-Vega;Am J Hum Genet,1994
5. Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del;Arredondo-Vega;Hum Mutat,1998
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