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

Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N-glycosylation of proteins. PMM2-CDG is an autosomal recessive disease with a large phenotypic spectrum, and is associated with mutations in the PMM...

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Detalles Bibliográficos
Autores principales: Citro, Valentina, Cimmaruta, Chiara, Monticelli, Maria, Riccio, Guglielmo, Hay Mele, Bruno, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121245/
https://www.ncbi.nlm.nih.gov/pubmed/30061496
http://dx.doi.org/10.3390/ijms19082218

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121245/
https://www.ncbi.nlm.nih.gov/pubmed/30061496
http://dx.doi.org/10.3390/ijms19082218

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