The analysis of variants in the general population reveals that PMM2 is extremely tolerant to missense mutations and that diagnosis of PMM2-CDG can benefit from the identification of modifiers

International Journal of Molecular Sciences

Volumn 19, Issue 8, 2018, Pages

  Citro, Valentina ^a   Cimmaruta, Chiara ^a   Monticelli, Maria ^a   Riccio, Guglielmo ^a   Mele, Bruno Hay ^a   Cubellis, Maria Vittoria ^a   Andreotti, Giuseppina ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CNR Consiglio Nazionale delle Ricerche   (Italy)

Author keywords

Clinical informatics; Disorder of glycosylation; Modifier genes; Variant analysis

Indexed keywords

PHOSPHOMANNOMUTASE; MUTASE; PHOSPHOMANNOMUTASE 2, HUMAN;

ALLELE; ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYMATIC ASSAY; ETHNICITY; GENE MUTATION; GENETIC VARIATION; HOMOZYGOSITY; HUMAN; INFLAMMATION; MISSENSE MUTATION; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; REAL TIME POLYMERASE CHAIN REACTION; THERMOSTABILITY; CHEMISTRY; GENETIC ASSOCIATION STUDY; GENETICS; GLYCOSYLATION; MOLECULAR MODEL; MUTATION; PROTEIN CONFORMATION;

CONGENITAL DISORDERS OF GLYCOSYLATION; GENETIC ASSOCIATION STUDIES; GLYCOSYLATION; HUMANS; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PROTEIN CONFORMATION;

EID: 85052084978     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms19082218     Document Type: Article

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