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A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India
A large number of congenital disorders are very rare and localized to rural areas in India, a country that practices both endogamy and consanguinity. Recent advances in genomics can aid in the identification of causative genomic elements when exploring therapeutic interventions and developing neonat...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803204/ https://www.ncbi.nlm.nih.gov/pubmed/29423242 http://dx.doi.org/10.1038/hgv.2017.61 |