Literature DB >> 28431840

Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.

J C Roche Bueno1, C Arcos Sánchez2, F Salgado Álvarez de Sotomayor2, S Izquierdo-Álvarez3, M D Miramar Gallart3, J Solera García4.   

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Year:  2017        PMID： 28431840     DOI： 10.1016/j.nrl.2017.02.015

Source DB:  PubMed          Journal:  Neurologia (Engl Ed)        ISSN： 2173-5808


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  1 in total

1.  Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

Authors:  Najlae Adadi; Maryem Sahli; Grégory Egéa; Ilham Ratbi; Mohamed Taoudi; Layla Zniber; Wafaa Jdioui; Said El Mouatassim; Abdelaziz Sefiani
Journal:  J Med Case Rep       Date:  2018-10-29
  1 in total

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