GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Identification of variants in the acid α‐glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry, a long‐term, observational p...

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Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: Reuser, Arnold J. J., van der Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2019
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Research Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852536/
https://ncbi.nlm.nih.gov/pubmed/31342611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23878
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