Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
RET 和 BBS 突变之间的上位性调节肠神经支配,并导致综合征型先天性巨结肠症
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.0901219106
de Pontual Loïc, Zaghloul Norann A, Thomas Sophie, Davis Erica E, McGaughey David M, Dollfus Hélène, Baumann Clarisse, Bessling Seneca L, Babarit Candice, Pelet Anna, Gascue Cecilia, Beales Philip, Munnich Arnold, Lyonnet Stanislas, Etchevers Heather, Attie-Bitach Tania, Badano Jose L, McCallion Andrew S, Katsanis Nicholas, Amiel Jeanne