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Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy
In this study, we report three cases of nonketotic hyperglycinemia (NKHG) diagnosed biochemically and molecularly. Clinical exome analysis in two families revealed two novel mutations in the aminomethyltransferase (AMT) gene, that is, c.14_15insT (p.Ser6LysfsTer22) and c.259–2A > T, both of them...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2018
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6087477/ https://ncbi.nlm.nih.gov/pubmed/30105116 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1667036 |
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