Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc

Congenital disorder of glycosylation IIc (CDG IIc), also termed leukocyte adhesion deficiency II, is a recessive syndrome characterized by slowed growth, mental retardation, and severe immunodeficiency. Recently, the gene responsible for CDG IIc was found to encode a GDP-fucose transporter. Here, we...

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Autores principales: Ishikawa, Hiroyuki O., Higashi, Shunsuke, Ayukawa, Tomonori, Sasamura, Takeshi, Kitagawa, Motoo, Harigaya, Kenichi, Aoki, Kazuhisa, Ishida, Nobuhiro, Sanai, Yutaka, Matsuno, Kenji
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2005
Materias:
Biological Sciences
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1317902/
https://ncbi.nlm.nih.gov/pubmed/16344471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0504115102
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