The 253-kb inversion and deep intronic mutations inUNC13Dare present in North American patients with familial hemophagocytic lymphohistiocytosis 3

Author:

Qian Yaping12,Johnson Judith A.1,Connor Jessica A.1,Valencia C. Alexander12,Barasa Nathaniel1,Schubert Jeffery1,Husami Ammar1,Kissell Diane1,Zhang Ge1,Weirauch Matthew T.3,Filipovich Alexandra H.4,Zhang Kejian12

Affiliation:

1. Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

2. Department of Pediatrics; University of Cincinnati School of Medicine; Cincinnati Ohio

3. Center for Autoimmune Genomics and Etiology (CAGE) and Divisions of Rheumatology and Biomedical Informatics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

4. Bone Marrow Transplantation & Immune Deficiency; Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference28 articles.

1. Review of haemophagocytic lymphohistiocytosis;Freeman;Arch Dis Child,2011

2. Hemophagocytic lymphohistiocytosis related disorders;Filipovich;Curr Opin Allergy Clin Immunol,2006

3. Histiocyte disorders;Henter;Crit Rev Oncol Hematol,2004

4. Hemophagocytic syndromes;Janka;Blood Rev,2007

5. Perforin gene defects in familial hemophagocytic lymphohistiocytosis;Stepp;Science,1999

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