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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2021
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