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Human Mutation, ISSN 1059-7794, 04/2013, Volume 34, Issue 4, pp. 572 - 577
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2011, Volume 88, Issue 6, pp. 852 - 860
Journal Article
Blood, ISSN 0006-4971, 02/2013, Volume 121, Issue 8, pp. 1345 - 1356
Journal Article
Indian Journal of Dermatology, ISSN 0019-5154, 2014, Volume 59, Issue 4, pp. 394 - 397
Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic... 
Kala Azar | mutation | Griscelli syndrome | DERMATOLOGY | Case studies | Development and progression | Reports | Diagnosis | Case Review
Journal Article
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 2014, Volume 4, pp. 515 - 515
Familial hemophagocytic lymphohistiocytosis (FHL) is an often-fatal hyperinflammatory disorder caused by autosomal recessive mutations in PRF1, UNC13D, STX11,... 
N-peptide | Familial hemophagocytic lymphohistiocytosis | Munc18-2 | Syntaxin-11 | Primary Immunodeficiency Diseases | hemopagocytic lymphohistocytosis | NK cells | cytotoxic T lymphocyte (CTL) | degranulation
Journal Article
Blood, ISSN 0006-4971, 11/2011, Volume 118, Issue 22, pp. 5783 - 5793
Journal Article
Journal Article
British Journal of Haematology, ISSN 0007-1048, 08/2013, Volume 162, Issue 3, pp. 415 - 418
Journal Article
Journal Article
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 10/2009, Volume 150, Issue 7, pp. 984 - 992
Journal Article