Griscelli syndrome-type 2 in twin siblings: Case report and update on RAB27A human mutations and gene structure

Brazilian Journal of Medical and Biological Research

Volumn 41, Issue 10, 2008, Pages 839-848

  Meschede, I P ^a   Santos, T O ^a   Izidoro Toledo, T C ^a   Gurgel Gianetti, J ^b   Espreafico, E M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Cerebellitis; Griscelli syndrome; Hemophagocytic lymphohistiocytosis; Immunodeficiency; RAB27A

Indexed keywords

GENOMIC DNA; RAB27A PROTEIN;

ARTICLE; CASE REPORT; CELL ISOLATION; DEATH; DISEASE SEVERITY; DNA EXTRACTION; EXON; GENE MUTATION; GENE STRUCTURE; GRISCELLI SYNDROME; GRISCELLI SYNDROME TYPE 2; HAIR COLOR; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNOBLOTTING; INTRON; MALE; MICROSCOPY; MONONUCLEAR CELL; MULTIPLE ORGAN FAILURE; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING; STOP CODON; TWINS;

EID: 59849121930     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2008001000002     Document Type: Article

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