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Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme.

A proportion of patients suffering from the autosomal recessive form of severe combined immunodeficiency have an inherited deficiency of adenosine deaminase (EC 3.5.4.4; adenosine aminohydrolase) (erythrocyte isoenzyme). We have, however, found residual adenosine deaminase activity in fibroblasts de...

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Autors principals: Hirschhorn, R, Beratis, N, Rosen, F S
Format: Artigo
Idioma:Inglês
Publicat: 1976
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC335871/
https://ncbi.nlm.nih.gov/pubmed/1061119
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