Gene Symbol: PRF1
OMIM: 170280Chromosome location: 10q22.1
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Turkey | NA | NA | 13 families/82 Unrelated families | NA | Balta G et al., 2010Balta G, Okur H, Unal S, Yarali N, Gunes AM, Unal S, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A, . Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.. Leuk. Res.. 2010; 34(8):1012-7 |
References
Balta G, Okur H, Unal S, Yarali N, Gunes AM, Unal S, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A, Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.Leuk. Res.. 2010; 34(8):1012-7