Human perforin gene variation is geographically distributed

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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 disorders, such as lymphomas and diabetes. Yet, there is still an overwhelmingly large amount of ...

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ژورنال

عنوان ژورنال: Molecular Genetics & Genomic Medicine

سال: 2017

ISSN: 2324-9269

DOI: 10.1002/mgg3.344