Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet—Biedl syndrome

Autor:	Zaghloul, Norann A., Liu, Yangjian, Gerdes, Jantje M., Gascue, Cecilia, Oh, Edwin C., Leitch, Carmen C., Bromberg, Yana, Binkley, Jonathan, Leibel, Rudolph L., Sidow, Arend, Badano, Jose L., Katsanis, Nicholas, Nathans, Jeremy
Zdroj:	Proceedings of the National Academy of Sciences of the United States of America, 2010 Jun 01. 107(23), 10602-10607.
Databáze:	JSTOR Journals
Externí odkaz:	https://www.jstor.org/stable/25681829 Zobrazit plný text záznamu