Identification and characterization of a novel splice-site mutation in a patient with Waistcoat-Aldrich syndrome

Journal of Human Genetics

Volumn 48, Issue 11, 2003, Pages 590-593

  Andreu, Nuria ^a   Carreras, Carmen ^b   Prieto, Félix ^b   Estivill, Xavier ^a,c   Volpini, Victor ^d   Fillat, Cristina ^a  

^a CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

Expression studies; Molecular analysis; Splice site mutation; Wiskott Aldrich syndrome

Indexed keywords

GENOMIC DNA; MESSENGER RNA; RNA;

ARTICLE; CASE REPORT; ECZEMA; GENE EXPRESSION; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; INFANT; INTRON; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SYNDROME DELINEATION; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME RECESSIVE DISORDER;

ANIMALS; CELL LINE; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; HUMANS; INTRONS; MALE; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; WISKOTT-ALDRICH SYNDROME;

VESPIDAE;

EID: 0346881530     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0083-6     Document Type: Article

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