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pubmed-article:9445504pubmed:abstractTextTo 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.lld:pubmed
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pubmed-article:9445504pubmed:articleTitleMutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.lld:pubmed
pubmed-article:9445504pubmed:affiliationAbteilung Medizinische Genetik, Klinikum Innenstadt, Universität München, Germany.lld:pubmed
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