Search Results - "Beutelspacher, K."

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG by González-Domínguez, C.A., Villarroel, C.E., Rodríguez-Morales, M., Manrique-Hernández, S., González-Jaimes, A., Olvera-Rodriguez, F., Beutelspacher, K., Molina-Garay, C., Carrillo-Sánchez, K., Flores-Lagunes, L.L., Jiménez-Olivares, M., Muñoz-Rivas, A., Cruz-Muñoz, M.E., Mora-Montes, H.M., Salinas-Marín, R., Alaez-Verson, C., Martínez-Duncker, I.

“…We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF)…”
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Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG by González-Domínguez, C A, Villarroel, C E, Rodríguez-Morales, M, Manrique-Hernández, S, González-Jaimes, A, Olvera-Rodriguez, F, Beutelspacher, K, Molina-Garay, C, Carrillo-Sánchez, K, Flores-Lagunes, L L, Jiménez-Olivares, M, Muñoz-Rivas, A, Cruz-Muñoz, M E, Mora-Montes, H M, Salinas-Marín, R, Alaez-Verson, C, Martínez-Duncker, I

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