The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

Amorphic mutations in the NF-κB essential modulator (NEMO) cause X-dominant incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations cause X-recessive anhidrotic ectodermal dysplasia with immunodeficiency, a complex developmental disorder and life-threatening primary...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Puel, Anne, Reichenbach, Janine, Bustamante, Jacinta, Ku, Cheng-Lung, Feinberg, Jacqueline, Döffinger, Rainer, Bonnet, Marion, Filipe-Santos, Orchidée, Beaucoudrey, Ludovic de, Durandy, Anne, Horneff, Gerd, Novelli, Francesco, Wahn, Volker, Smahi, Asma, Israel, Alain, Niehues, Tim, Casanova, Jean-Laurent
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society of Human Genetics 2006
Aiheet:
Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1424680/
https://ncbi.nlm.nih.gov/pubmed/16532398
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia