Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Willenbring, Robin C., Ikeda, Yasuhiro, Pease, Larry R., Johnson, Aaron J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823683/
https://www.ncbi.nlm.nih.gov/pubmed/29216683
http://dx.doi.org/10.1002/mgg3.344