Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.

Abstract excerpt

INTRODUCTION: X-Linked agammaglobulinemia is a prototypical humoral immunodeficiency with the mutation of the Bruton's tyrosine kinase gene. METHODS: We investigated the gene mutation and clinical features of 30 Chinese X-linked agammaglobulinemia (XLA) patients from 27 families. There were 26 mutations, including 11 novel and 15 recurrent mutations, distributing over the entire gene. The nucleotide and amino...

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