A novel RAB27A mutation in a patient with Griscelli syndrome type 2. [electronic resource]
Producer: 20110317Description: 612-5 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article
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