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Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients

BACKGROUND: Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives. MATERIALS AND METHODS: In this cross-sectional study...

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Detalles Bibliográficos
Autores principales:	Ebrahimi, Milad, Behnam, Mahdieh, Behranvand-jazi, Nafiseh, Yari, Ladan, Sheikh-kanlomilan, Sajad, Salehi, Mansoor, Tahmasebi, Pardis, Amini, Mohaddeseh, Behjati, Mohaddeseh, Hosseini, Nafisehsadat
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2017
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583621/ https://www.ncbi.nlm.nih.gov/pubmed/28900456 http://dx.doi.org/10.4103/jrms.JRMS_874_16

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