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Detection of the Carrier State in Combined Immunodeficiency Disease Associated with Adenosine Deaminase Deficiency

A large pedigree containing a child with severe combined immunodeficiency disease (CID) associated with adenosine deaminase (ADA) deficiency was investigated to ascertain if heterozygotes could be detected by measuring red cell ADA activity. 9 of 17 individuals in three generations who were at risk...

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Autors principals: Scott, C. Ronald, Chen, Shi-Han, Giblett, Eloise R.
Format: Artigo
Idioma:Inglês
Publicat: 1974
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC333106/
https://ncbi.nlm.nih.gov/pubmed/4815083
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