A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4

Turkish Journal of Pediatrics

Volumn 48, Issue 1, 2006, Pages 66-68

  Doǧu, Figen ^a   Ariga, Tadashi ^b   Ikincioǧullari, Aydan ^a   Bozdoǧan, Günseli ^a   Aytekin, Caner ^a   Metin, Ayşe ^c   Babacan, Emel ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b HOKKAIDO UNIVERSITY   (Japan)

^c Social Security Hospital   (Turkey)

Author keywords

Thrombocytopenia; WASP gene; Wiskott Aldrich syndrome

Indexed keywords

IMMUNOGLOBULIN; IMMUNOGLOBULIN M; PREDNISOLONE; WISKOTT ALDRICH SYNDROME PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ECZEMA; EXON; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNE DEFICIENCY; MALE; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN ANALYSIS; PROTEIN DETERMINATION; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SKIN BRUISING; THROMBOCYTE COUNT; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 33644814865     PISSN: 00414301     EISSN: 00414301     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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