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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | PLoS Genet |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Public Library of Science
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7850488/ https://ncbi.nlm.nih.gov/pubmed/33524012 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009307 |
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