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A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2.

Authors :
Saettini F
Castelli I
Provenzi M
Fazio G
Quadri M
Cazzaniga G
Sala S
Dell'Acqua F
Sieni E
Coniglio ML
Pezzoli L
Iascone M
Vendemini F
Balduzzi AC
Biondi A
Rizzari C
Bonanomi S
Source :
Pediatric hematology and oncology [Pediatr Hematol Oncol] 2021 Mar; Vol. 38 (2), pp. 174-178. Date of Electronic Publication: 2020 Jul 22.
Publication Year :
2021

Details

Language :
English
ISSN :
1521-0669
Volume :
38
Issue :
2
Database :
MEDLINE
Journal :
Pediatric hematology and oncology
Publication Type :
Report
Accession number :
32696691
Full Text :
https://doi.org/10.1080/08880018.2020.1793849