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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Vydáno v:Hum Mutat
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Research Articles
On-line přístup: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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