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A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
A girl with congenital agammaglobulinemia and minor facial anomalies lacked B cells in peripheral blood: karyotypic analysis of white blood cells showed balanced translocation, t(9;20)(q33.2;q12). In the current study, we isolated a novel gene, leucine-rich repeat–containing 8 (LRRC8), at the transl...
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| Main Authors: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC281644/ https://ncbi.nlm.nih.gov/pubmed/14660746 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200318937 |
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