A patient-based medaka alg2 mutant as a model for hypo- N -glycosylation

Defects in the evolutionarily conserved protein-glycosylation machinery during embryonic development are often fatal. Consequently, congenital disorders of glycosylation (CDG) in human are rare. We modelled a putative hypomorphic mutation described in an alpha-1,3/1,6-mannosyltransferase (ALG2) inde...

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Veröffentlicht in:Development (Cambridge) 2021-06, Vol.148 (11)
Hauptverfasser: Gücüm, Sevinç, Sakson, Roman, Hoffmann, Marcus, Grote, Valerian, Becker, Clara, Pakari, Kaisa, Beedgen, Lars, Thiel, Christian, Rapp, Erdmann, Ruppert, Thomas, Thumberger, Thomas, Wittbrodt, Joachim
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Sprache:eng
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