Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Zellweger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects in peroxisome biogenesis due to bi-allelic mutations in any of 13 different PEX genes. Here, we identified seven unrelated individuals affected with an apparent dominant ZSD in whom a heterozygous mutant...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, FrancJan, Körver-Keularts, Irene, Rubio-Gozalbo, M. Estela, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5812895/
https://ncbi.nlm.nih.gov/pubmed/29220678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.11.007
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados