Analysis of RAB27A gene in Griscelli syndrome type 2: Novel mutations including a deletion hotspot

Journal of Clinical Immunology

Volumn 28, Issue 4, 2008, Pages 384-389

  Mamishi, Setareh ^a,b   Modarressi, Mohammad Hossein ^b   Pourakbari, Babak ^a   Tamizifar, Banafshe ^b,c   Mahjoub, Fatemeh ^a,b   Fahimzad, Alireza ^d,h   Alyasin, Soheila ^e,i   Bemanian, Mohamad Hassan ^f   Hamidiyeh, Amir Ali ^b,g   Fazlollahi, Mohammad Reza ^a,b   Ashrafi, Mahmoud Reza ^a,b   Isaeian, Anna ^a,b   Khotaei, Ghamartaj ^a,b   Yeganeh, Mehdi ^a,b   Parvaneh, Nima ^a,b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

ⁱ SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Deletion hotspot; Griscelli syndrome; RAB27A

Indexed keywords

CYCLOSPORIN; DEXAMETHASONE; ETOPOSIDE; METHYLPREDNISOLONE; PREDNISOLONE; RAB27A PROTEIN;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMORBIDITY; CONSANGUINITY; DISEASE COURSE; DRUG DOSE REDUCTION; DRUG MEGADOSE; ERYTHROPHAGOCYTOSIS; EXOCYTOSIS; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GRISCELLI SYNDROME; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEPATOSPLENOMEGALY; HUMAN; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCYTOPENIA; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT OUTCOME;

AGE OF ONSET; ALBINISM; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; POLYMERASE CHAIN REACTION; RAB GTP-BINDING PROTEINS; SEQUENCE DELETION; SYNDROME;

EID: 46749135657     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-008-9192-5     Document Type: Article

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