A novel gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton's tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, t...
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Main Authors: | , , , , , , , , |
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Format: | Book |
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Korean Pediatric Society,
2016-11-01T00:00:00Z.
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A1234.567 |
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