Article
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
Pediatrics - 1 Feb 1998
Holinski-Feder E, Weiss M, Brandau O, Jedele K B, Nore B, Bäckesjö C M, Vihinen M, Hubbard S R, Belohradsky B H, Smith C I, Meindl A
Abstract excerpt
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...
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