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, this a...
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| Asıl Yazarlar: | , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Korean Pediatric Society
2016-11-01
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| Seri Bilgileri: | Korean Journal of Pediatrics |
| Konular: | |
| Online Erişim: | http://kjp.or.kr/upload/pdf/kjped-59-S49.pdf |
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