Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease

Hundreds of mutations in a single gene result in rare diseases, but why mutations induce severe or attenuated states remains poorly understood. Defect in glycine decarboxylase (GLDC) causes Non-ketotic Hyperglycinemia (NKH), a neurological disease associated with elevation of plasma glycine. We unif...

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Detalles Bibliográficos
Autores principales: Farris, Joseph, Alam, Md Suhail, Rajashekara, Arpitha Mysore, Haldar, Kasturi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7850488/
https://www.ncbi.nlm.nih.gov/pubmed/33524012
http://dx.doi.org/10.1371/journal.pgen.1009307

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7850488/
https://www.ncbi.nlm.nih.gov/pubmed/33524012
http://dx.doi.org/10.1371/journal.pgen.1009307

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