Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR

Blood Cells, Molecules, and Diseases

Volumn 39, Issue 1, 2007, Pages 102-106

  Proust, Alexis ^a   Guillet, Benoît ^a,b,c   Picard, Capucine ^d   de Saint Basile, Geneviève ^d   Pondarré, Corinne ^e   Tamary, Hannah ^f   Dreyfus, Marie ^a,b   Tchernia, Gil ^a,b,g   Fischer, Alain ^d   Delaunay, Jean ^a,b,g  

^a BICÊTRE HOSPITAL   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e HÔPITAL DEBROUSSE   (France)

^f TEL AVIV UNIVERSITY   (Israel)

^g INSERM   (France)

Author keywords

Multiplex PCR; Novel mutations; WAS gene; Wiskott Aldrich syndrome; X linked thrombocytopenia

Indexed keywords

GENOMIC DNA;

AMPLICON; ARTICLE; CLINICAL FEATURE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION SEQUENCE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; THROMBOCYTOPENIA; WISKOTT-ALDRICH SYNDROME;

EID: 34249035154     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2007.02.007     Document Type: Article

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