A novel RAB27A mutation in a patient with griscelli syndrome type 2

Journal of Investigational Allergology and Clinical Immunology

Volumn 20, Issue 7, 2010, Pages 612-615

  Shamsian, B S ^a   Norbakhsh, K ^a   Rezaei, N ^b,c   Safari, A ^a   Gharib, A ^a   Pourpak, Z ^d   Alavi, S ^a   Parvaneh, N ^b   Arzanian, M T ^a  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Gene mutation; Griscelli syndrome type 2; Hemophagocytic lymphohistiocytosis; Immunodeficiency; Rab27a

Indexed keywords

IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; RAB27A PROTEIN;

ALLOGENEIC STEM CELL TRANSPLANTATION; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CLINICAL FEATURE; ERYTHROPHAGOCYTOSIS; EXON; EYEBROW; EYELASH; FEVER; GENE MUTATION; GENETIC ANALYSIS; GRISCELLI SYNDROME; GRISCELLI SYNDROME TYPE 2; HAIR COLOR; HAIR DISEASE; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; LEUKOCYTE STRUCTURE; MALE; NEUTROPENIA; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; OCULOCUTANEOUS ALBINISM; SEQUENCE ANALYSIS; THROMBOCYTOPENIA; TREATMENT RESPONSE;

AMINO ACID SEQUENCE; BASE SEQUENCE; GENETIC VARIATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MOLECULAR SEQUENCE DATA; PIEBALDISM; POLYMORPHISM, SINGLE NUCLEOTIDE; RAB GTP-BINDING PROTEINS;

EID: 79251481526     PISSN: 10189068     EISSN: 16980808     Source Type: Journal    
DOI: None     Document Type: Article

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