One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

We have cloned and sequenced an adenosine deaminase (ADA) gene from a patient with severe combined immunodeficiency (SCID) caused by inherited ADA deficiency. Two point mutations were found, resulting in amino acid substitutions at positions 80 (Lys to Arg) and 304 (Leu to Arg) of the protein. Hybri...

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Bibliografske podrobnosti
Main Authors: Valerio, D, Dekker, B M, Duyvesteyn, M G, van der Voorn, L, Berkvens, T M, van Ormondt, H, van der Eb, A J
Format: Artigo
Jezik:Inglês
Izdano: 1986
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1166702/
https://ncbi.nlm.nih.gov/pubmed/3007108
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