Genotype-Phenotype Correlations in PMM2-CDG

PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well...

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Detalles Bibliográficos
Autores principales: Vaes, Laurien, Rymen, Daisy, Cassiman, David, Ligezka, Anna, Vanhoutvin, Nele, Quelhas, Dulce, Morava, Eva, Witters, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620515/
https://www.ncbi.nlm.nih.gov/pubmed/34828263
http://dx.doi.org/10.3390/genes12111658

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620515/
https://www.ncbi.nlm.nih.gov/pubmed/34828263
http://dx.doi.org/10.3390/genes12111658

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