Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

We have identified a previously unrecognized missense mutation in a patient with severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). The mutation is a G646-to-A transition at a CG dinucleotide and predicts a glycine-to-arginine substitution at codon 216. Computer analy...

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Hlavní autoři: Hirschhorn, R, Chakravarti, V, Puck, J, Douglas, S D
Médium: Artigo
Jazyk:Inglês
Vydáno: 1991
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683191/
https://ncbi.nlm.nih.gov/pubmed/1680289
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