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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 12, 2024. (Total: 234319Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Fever and PRF1[original query]
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Journal of medical genetics 2008 Jan 45 (1): 15-21.
Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter J-I, Griffiths G, Santoro A, Filipovich A, Aricò M,
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
British journal of haematology 2008 Oct 143 (1): 75-83.
Horne AnnaCarin, Ramme Kim Göransdotter, Rudd Eva, Zheng Chengyun, Wali Yasser, al-Lamki Zakia, Gürgey Aytemiz, Yalman Nevin, Nordenskjöld Magnus, Henter Jan-In
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
The American journal of the medical sciences 2023 7 .
Xiangke Xin, Na Wang, Yicheng Zha
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