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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,… Click to show full abstract
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 PRF1 mutations that are not associated with disease.
Keywords:
variation geographically;
medicine;
gene variation;
human perforin;
perforin gene;
geographically distributed
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
Link to full text (if available)
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recommendations!