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

GILIANI, Silvia Clara;Rui Chen;Gaetana Lanzi;George I. Mias;LONARDI, Silvia;Kerry Dobbs;John Manis;Hogune Im;Jennifer E. Gallagher;Douglas H. Phanstiel;Ghia Euskirchen;Philippe Lacroute;Keith Bettinger;Daniele Moratto;Katja Weinacht;Davide Montin;Eleonora Gallo;Giovanna Mangili;Fulvio Porta;Lucia D. Notarangelo;Stefania Pedretti;Waleed Al Herz;Wasmi Alfahdli;Anne Marie Comeau;Russell S. Traister;Sung Yun Pai;Graziella Carella;FACCHETTI, Fabio;Kari C. Nadeau;Michael Snyder;Luigi D. Notarangelo

2013-01-01