Article
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
Blood - 15 Nov 1995
Zhu Q, Zhang M, Blaese R M, Derry J M, Junker A, Francke U, Chen S H, Ochs H D
Abstract excerpt
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema, recurrent infections, and immunodeficiency. Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency. Because the gene responsible for WAS has...
Topics
- Base Sequence
- Blood Platelets
- Cell Line
- Cell Size
- DNA Fingerprinting
- DNA Mutational Analysis
- DNA, Complementary
- Exons
- Humans
- Molecular Sequence Data
- Mutation