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El tipo CDG Ib , se debe a la deficiencia de fosfomanosa isomerasa (MPI) debida a mutaciones en el gen MPI del cromosoma 15

The locally available method (LightPower assay) failed to identify genotype 6 non-a/non-b, which highlights that methods using 5UTR information only should not be used in Cambodia

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Takemoto K, Imai Y, Saito K, Kawasaki T, Carlton PM, Ishiguro K, Sakai N (2020) Sycp2 is essential for synaptonemal complex assembly, early meiotic recombination and homologous pairing in zebrafish spermatocytes