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Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

Human severe combined immunodeficiency (SCID), a syndrome of profoundly impaired cellular and humoral immunity, is most commonly caused by mutations in the X-linked gene for interleukin-2 (IL-2) receptor gamma chain (IL2RG). For mutational analysis of IL2RG in males with SCID, SSCP screening was fol...

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Detalhes bibliográficos
Main Authors: Pepper, A E, Buckley, R H, Small, T N, Puck, J M
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801277/
https://ncbi.nlm.nih.gov/pubmed/7668284
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