Article
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
International journal of molecular medicine - 1 May 2007
Andreu Nuria, Matamoros Núria, Escudero Antonio, Fillat Cristina
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are rare X-linked genetic disorders caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene. Both disorders are clinically characterized by chronic thrombocytopenia of small platelets. WAS is a more severe form of the disorder and also courses with eczema, and immune dysfunction. In the present study, we investigated two novel...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Platelet Count
- Thrombocytopenia
- Wiskott-Aldrich Syndrome
- Wiskott-Aldrich Syndrome Protein