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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...
Autores principales: | 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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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217707/ https://www.ncbi.nlm.nih.gov/pubmed/34106226 http://dx.doi.org/10.1242/dev.199385 |
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