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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Detalhes bibliográficos
Main Authors: Sawada, Akihisa, Takihara, Yoshihiro, Kim, Ji Yoo, Matsuda-Hashii, Yoshiko, Tokimasa, Sadao, Fujisaki, Hiroyuki, Kubota, Keiko, Endo, Hiroko, Onodera, Takashi, Ohta, Hideaki, Ozono, Keiichi, Hara, Junichi
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2003
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Article
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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