Wiskott-Aldrich syndrome: No strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product

Human Genetics

Volumn 98, Issue 1, 1996, Pages 68-76

  Schindelhauer, Dirk ^a   Weiss, Michael ^b   Hellebrand, Heide ^a   Golla, Astrid ^a   Hergersberg, Martin ^c   Seger, Reinhard ^c   Belohradsky, Bernd H ^b   Meindl, Alfons ^a  

^a Abteilung Medizinische Genetik   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PHOSPHOPROTEIN;

ACTIN FILAMENT; ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CLINICAL ARTICLE; CODON; CYTOARCHITECTURE; EXON; FEMALE; GENOTYPE; GERMANY; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; SWITZERLAND; THROMBOCYTOPENIA; TURKEY (REPUBLIC); WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKAGE;

ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOTYPE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; SEQUENCE HOMOLOGY, NUCLEIC ACID; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

VESPIDAE;

EID: 0029999252     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050162     Document Type: Article

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