Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene

Congenital disorders of glycosylation (CDG) are a heterogeneous group of systemic disorders characterized by defects in glycosylation of lipids and proteins. One of the rare subtypes of CDG is CDG-Ij (MIM # 608093), which is caused by pathogenic mutations in DPAGT1, a gene encoding UDP-N-acetylgluco...

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Detalles Bibliográficos
Autores principales: Tabatabaei, Zahra, Karbalaie, Khadijeh, Habibzadeh, Parham, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali, Nasr Esfahani, Mohammad-Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588824/
https://www.ncbi.nlm.nih.gov/pubmed/34837688
http://dx.doi.org/10.22074/cellj.2021.7335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8588824/
https://www.ncbi.nlm.nih.gov/pubmed/34837688
http://dx.doi.org/10.22074/cellj.2021.7335

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