Whole Exome Sequencing Identifies TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresias

BACKGROUND: Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. OBJECTIVE: We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequence of 5 patien...

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Main Authors: Chen, Rui, Giliani, Silvia, Lanzi, Gaetana, Mias, George I., Lonardi, Silvia, Dobbs, Kerry, Manis, John, Im, Hogune, Gallagher, Jennifer E., Phanstiel, Douglas H., Euskirchen, Ghia, Lacroute, Philippe, Bettinger, Keith, Moratto, Daniele, Weinacht, Katja, Montin, Davide, Gallo, Eleonora, Mangili, Giovanna, Porta, Fulvio, Notarangelo, Lucia D., Pedretti, Stefania, Al-Herz, Waleed, Alfahdli, Wasmi, Comeau, Anne Marie, Traister, Russell S, Pai, Sung-Yun, Carella, Graziella, Facchetti, Fabio, Nadeau, Kari C., Snyder, Michael, Notarangelo, Luigi D.
Format: Artigo
Language:Inglês
Published: 2013
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759618/
https://ncbi.nlm.nih.gov/pubmed/23830146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2013.06.013
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