A novel RAB27A mutation in a patient with Griscelli syndrome type 2. [electronic resource]
- Journal of investigational allergology & clinical immunology 2010
- 612-5 p. digital
Publication Type: Case Reports; Journal Article
1018-9068
Amino Acid Sequence Base Sequence Genetic Variation Humans Immunologic Deficiency Syndromes--genetics Infant Lymphohistiocytosis, Hemophagocytic Male Molecular Sequence Data Piebaldism--genetics Polymorphism, Single Nucleotide Primary Immunodeficiency Diseases rab GTP-Binding Proteins--genetics rab27 GTP-Binding Proteins