Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

Autor:	Marshall, Christian R1,2 (AUTHOR), Farrell, Sandra A3 (AUTHOR), Cushing, Donna3 (AUTHOR), Paton, Tara1 (AUTHOR), Stockley, Tracy L4 (AUTHOR), Stavropoulos, Dimitri J4 (AUTHOR), Ray, Peter N4 (AUTHOR), Szego, Michael1,5 (AUTHOR), Lau, Lynette1 (AUTHOR), Pereira, Sergio L1 (AUTHOR), Cohn, Ronald D6 (AUTHOR), Wintle, Richard F1 (AUTHOR), Abuzenadah, Adel M7,8 (AUTHOR), Abu-Elmagd, Muhammad7,8,9 (AUTHOR), Scherer, Stephen W1,2,7 (AUTHOR) stephen.scherer@sickkids.ca
Zdroj:	BMC Genomics. 2015 Supplement, Vol. 16, pS12-S18. 7p. 1 Chart.
Databáze:	Academic Search Ultimate
Externí odkaz:	Zobrazit plný text záznamu