Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
E Holinski-Feder, M Weiss, O Brandau, KB Jedele… - …, 1998 - publications.aap.org
Objectives. To determine the utility of single-stranded conformation polymorphism (SSCP)
analysis for mutation screening in the BTK (Bruton's tyrosine kinase) gene, we investigated
56 X-linked agammaglobulinemia (XLA) families. To obtain genotype/phenotype
correlations, predicted protein aberrations were correlated with the clinical course of the
disease. Patients. This study included 56 patients with XLA, with or without a positive family
history, who were diagnosed on the basis of their clinical features, low peripheral B-cell …
analysis for mutation screening in the BTK (Bruton's tyrosine kinase) gene, we investigated
56 X-linked agammaglobulinemia (XLA) families. To obtain genotype/phenotype
correlations, predicted protein aberrations were correlated with the clinical course of the
disease. Patients. This study included 56 patients with XLA, with or without a positive family
history, who were diagnosed on the basis of their clinical features, low peripheral B-cell …