Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

A homozygote missense mutation of the pseudouridylate synthase gene was found in an adult patient with chronic sideroblastic anemia, diarrhea, microcephaly and failure to thrive. Moderate muscle weakness occurred in adulthood (6-min walk distance at 26 years: 240 m, control range 380–782 m) but a pr...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Metodiev, Metodi D, Assouline, Zahra, Landrieu, Pierre, Chretien, Dominique, Bader-Meunier, Brigitte, Guitton, Corinne, Munnich, Arnold, Rötig, Agnès
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795040/
https://ncbi.nlm.nih.gov/pubmed/25227147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.192
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