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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Enregistré dans:
Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Metodiev, Metodi D, Assouline, Zahra, Landrieu, Pierre, Chretien, Dominique, Bader-Meunier, Brigitte, Guitton, Corinne, Munnich, Arnold, Rötig, Agnès
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
Sujets:
Short Report
Accès en ligne: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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