Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

Human Mutation

Volumn 14, Issue 1, 1999, Pages 54-66

  Lemahieu, Vanessa ^a   Gastier, J M ^b   Francke, Uta ^a,b,c  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Mutation detection; WASP; Wiskott Aldrich Syndrome; X linked thrombocytopenia

Indexed keywords

ACTIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CYTOSKELETON; ECZEMA; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; IMMUNE DEFICIENCY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT INFECTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSLATION; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA; WESTERN BLOTTING; WISKOTT ALDRICH SYNDROME;

ALTERNATIVE SPLICING; BLOTTING, WESTERN; CODON, TERMINATOR; EXONS; HETERODUPLEX ANALYSIS; HUMANS; INTRONS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN BIOSYNTHESIS; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; THROMBOCYTOPENIA; TRANSCRIPTION, GENETIC; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

VESPIDAE;

EID: 0033035452     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E     Document Type: Article

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