Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

Molecular Genetics and Genomic Medicine

Volumn 1, Issue 1, 2013, Pages 32-44

  Andreotti, Giuseppina ^a   Pedone, Emilia ^b   Giordano, Assunta ^a   Cubellis, Maria Vittoria ^b,c  

^a CNR Consiglio Nazionale delle Ricerche   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

6 bisphosphate; Congenital disorders of glycosylation; Glucose 1; N glycosylation; Phosphomannomutase

Indexed keywords

EID: 84908398480     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.3     Document Type: Article

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