Article
High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.
Blood - 15 Nov 1995
Wengler G S, Notarangelo L D, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio A G, Parolini O
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive disorder characterized by immunodeficiency, thrombocytopenia, and severe eczema. WAS is a life-threatening disease, with a poor quality of life and high mortality rate in childhood. The gene responsible for the disease has bee...
Topics
- Base Sequence
- DNA Mutational Analysis
- Dosage Compensation, Genetic
- Female
- Frameshift Mutation
- Gene Frequency
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Proteins
- RNA Splicing
- Wiskott-Aldrich Syndrome
- Wiskott-Aldrich Syndrome Protein
- X Chromosome