Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome

American Journal of Medical Genetics

Volumn 100, Issue 2, 2001, Pages 116-121

  Stucki, U ^a   Spycher, M A ^b   Eich, G ^c   Rossi, A ^d   Sacher, P ^c   Steinmann, B ^a   Superti Furga, A ^a,c  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF PAVIA   (Italy)

Author keywords

Frame shift mutation; Missense mutation; Nonsense mutation; Wiskott Aldrich syndrome

Indexed keywords

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN; WISKOTT ALDRICH SYNDROME;

CODON, NONSENSE; CODON, TERMINATOR; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS; SPAIN; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 0035932776     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1228     Document Type: Article

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