The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation by Puel Anne, Reichenbach Janine, Bustamante Jacinta, Ku Cheng-Lung, Feinberg Jacqueline, Döffinger Rainer, Bonnet Marion, Filipe-Santos Orchidée, de Beaucoudrey Ludovic, Durandy Anne, Horneff Gerd, Novelli Francesco, Wahn Volker, Smahi Asma, Israel Alain, Niehues Tim, Casanova Jean-Laurent in American journal of human genetics (2006).

[PMID: 16532398] PubMed


Discussed In Paper


Rx Annotations

No dosing information annotated.