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

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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Bibliographic Details
Main Authors: Valentina Citro, Chiara Cimmaruta, Maria Monticelli, Guglielmo Riccio, Bruno Hay Mele, Maria Vittoria Cubellis, Giuseppina Andreotti
Format: Article
Language:English
Published: MDPI AG 2018-07-01
Series:International Journal of Molecular Sciences
Subjects:
disorder of glycosylation
variant analysis
clinical informatics
modifier genes
Online Access:http://www.mdpi.com/1422-0067/19/8/2218

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http://www.mdpi.com/1422-0067/19/8/2218

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