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ICF, An Immunodeficiency Syndrome: DNA Methyltransferase 3B Involvement, Chromosome Anomalies, and Gene Dysregulation

The immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF) is the only disease known to result from a mutated DNA methyltransferase gene, namely, DNMT3B. Characteristic of this recessive disease are decreases in serum immunoglobulins despite the presence of B cells and...

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Detalles Bibliográficos
Autores principales: Ehrlich, Melanie, Sanchez, Cecilia, Shao, Chunbo, Nishiyama, Rie, Kehrl, John, Kuick, Rork, Kubota, Takeo, Hanash, Samir M.
Formato: Texto
Lenguaje:English
Publicado: Informa Healthcare 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430169/
https://www.ncbi.nlm.nih.gov/pubmed/18432406
http://dx.doi.org/10.1080/08916930802024202