Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.

Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease caused by defective fucosylation leading to immuno-deficiency and psychomotor retardation. We have previously identified the genetic defect of LAD II in a patient whose Golgi GDP-fucose transporter (GFTP) bears a single amino aci...

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Detalhes bibliográficos
Principais autores: Helmus, Y, Denecke, J, Yakubenia, S, Robinson, P, Lühn, K, Watson, D, McGrogan, P, Vestweber, D, Marquardt, T, Wild, M
Formato: Journal article
Idioma:English
Publicado em: 2006