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Dokumenttyp:
journal article 
Autor(en):
Avitzur, Yaron; Guo, Conghui; Mastropaolo, Lucas A; Bahrami, Ehsan; Chen, Hannah; Zhao, Zhen; Elkadri, Abdul; Dhillon, Sandeep; Murchie, Ryan; Fattouh, Ramzi; Huynh, Hien; Walker, Jennifer L; Wales, Paul W; Cutz, Ernest; Kakuta, Yoichi; Dudley, Joel; Kammermeier, Jochen; Powrie, Fiona; Shah, Neil; Walz, Christoph; Nathrath, Michaela; Kotlarz, Daniel; Puchaka, Jacek; Krieger, Jonathan R; Racek, Tomas; Kirchner, Thomas; Walters, Thomas D; Brumell, John H; Griffiths, Anne M; Rezaei, Nima; Rashtian,...    »
 
Titel:
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. 
Abstract:
Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of diseases found in children younger than 6 years of age. They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD.We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. Candidate gene mutations were validated in 40 pediatric patients and functional studies were carried out using intestinal samples an...    »
 
Zeitschriftentitel:
Gastroenterology 
Jahr:
2014 
Band / Volume:
146 
Heft / Issue:
Seitenangaben Beitrag:
1028-39 
Sprache:
eng 
Print-ISSN:
0016-5085 
TUM Einrichtung:
Kinderklinik und Poliklinik