Condition: GRISCELLI SYNDROME, TYPE 2
rs104894497 in
RAB27A gene and
GRISCELLI SYNDROME, TYPE 2
PMID 16278825 2006 Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
PMID 26880764 2016 A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.
PMID 25544030 2015 Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).
PMID 12446441 2003 Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.
PMID 12531900 2003 Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.
PMID 15548590 2005 Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.
PMID 10835631 2000 Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
PMID 25500851 2014 Griscelli syndrome.
PMID 19953648 2010 Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
PMID 19030707 2008 Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
PMID 25071262 2014 An Indian boy with griscelli syndrome type 2: case report and review of literature.
PMID 15475639 2004 Griscelli syndrome: Rab 27a mutation.
PMID 18397837 2008 A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
PMID 27016801 2016 A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
PMID 23160464 2013 Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.
PMID 15163896 2004 Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.