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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2021
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| Materias: | |
| 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 |