Article
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
Proceedings of the National Academy of Sciences of the United States of America - 9 May 1995
Kwan S P, Hagemann T L, Radtke B E, Blaese R M, Rosen F S
Abstract excerpt
The Wiskott-Aldrich syndrome (WAS) is an X-chromosome-linked recessive disease characterized by eczema, thrombocytopenia, and immunodeficiency. The disease gene has been localized to the proximal short arm of the X chromosome and recently isolated through positional cloning. The function of the e...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- DNA Primers
- DNA, Satellite
- Exons
- Frameshift Mutation
- Humans
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic