A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome

International Journal of Hematology

Volumn 83, Issue 5, 2006, Pages 426-428

  Kim, Hee Jin ^a   Yoo, Eun Hyung ^a   Ki, Chang Seok ^a   Yoo, Geon Hee ^a   Koo, Hong Hoe ^a   Kim, Jong Won ^a   Kim, Sun Hee ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Korea; Mutation; WAS gene; Wiskott Aldrich syndrome

Indexed keywords

ADENINE; GUANINE; TRYPTOPHAN;

ARTICLE; BLOODY DIARRHEA; CASE REPORT; CLINICAL FEATURE; ECZEMA; EXON; FAMILY STUDY; GENE; GENE SEQUENCE; HUMAN; INFANT; MALE; MICROTHROMBOCYTOPENIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; RECURRENT INFECTION; SEQUENCE ANALYSIS; SOUTH KOREA; STOP CODON; SYMPTOM; THROMBOCYTOPENIA; WAS GENE; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE INHERITANCE;

ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MALE; POINT MUTATION; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 33751064883     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.A30513     Document Type: Article

References (11)

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