Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

doi:10.1016/j.jaci.2013.06.013

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Article

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

The Journal of allergy and clinical immunology - 1 Sept 2013

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

Abstract excerpt

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 sequences of 5 patients and their healthy direct relatives from 5 unrelated families. METHODS: We performed whole-exome sequencing on 5...

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PMID: 23830146
DOI: 10.1016/j.jaci.2013.06.013
PMCID: PMC3759618

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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.PMID 23830146Read ↗

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