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Human perforin gene variation is geographically distributed

BACKGROUND: Deleterious mutations in PRF1 result in lethal, childhood disease, familial hemophagocytic lymphohistiocytosis type 2 (FHL 2). However, not all mutations in PRF1 are deleterious and result in FHL 2. Currently, these nondeleterious mutations are being investigated in the onset of numerous...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Willenbring, Robin C., Ikeda, Yasuhiro, Pease, Larry R., Johnson, Aaron J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5823683/
https://ncbi.nlm.nih.gov/pubmed/29216683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.344
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