Article
Clinical course of patients with WASP gene mutations.
Blood - 15 Jan 2004
Imai Kohsuke, Morio Tomohiro, Zhu Yi, Jin Yinzhu, Itoh Sukeyuki, Kajiwara Michiko, Yata Jun-Ichi, Mizutani Shuki, Ochs Hans D, Nonoyama Shigeaki
Abstract excerpt
Mutations of the Wiskott-Aldrich syndrome protein (WASP) gene result either in the classic Wiskott-Aldrich syndrome (WAS) or in a less severe form, X-linked thrombocytopenia (XLT). A phenotype-genotype correlation has been reported by some but not by other investigators. In this study, we characterized WASP gene mutations in 50 Japanese patients and analyzed the clinical phenotype and course of each. All patients...
Topics
- Adolescent
- Adult
- Age of Onset
- Alternative Splicing
- Child
- Child, Preschool
- Chromosomes, Human, X
- Codon, Nonsense
- DNA Transposable Elements
- Exons
- Hemorrhage
- Humans
- Infant
- Introns
- Middle Aged