## Abstract Nonβsyndromic Xβlinked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. In Rett syn
Clinical Characteristics and Genotype-phenotype Correlation in 62 Patients with X-linked Agammaglobulinemia
β Scribed by Pamela P. W. Lee; Tong-Xin Chen; Li-Ping Jiang; Koon-Wing Chan; Wanling Yang; Bee-Wah Lee; Wen-Chin Chiang; Xiang-Yuan Chen; Susanna F. S. Fok; Tsz-Leung Lee; Marco H. K. Ho; Xi-Qiang Yang; Yu-Lung Lau
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 186 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0271-9142
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Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype va
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Communicated by Mark H. Paalman X-linked agammglobulinemia (XLA) is a ptototypical humoral immunodeficiency caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The genetic defect in XLA impairs early B cell development resulting in marked reduction of mature B cells in the blood