Associated Papers
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.
Lausmann H et al.
Frontiers in Genetics, 2022
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.
Bursle C et al.
Jimd Reports, 2017
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang AC et al.
Molecular Genetics and Metabolism, 2013
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Dancourt J et al.
Pediatric Research, 2006
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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