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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...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5803204/ https://ncbi.nlm.nih.gov/pubmed/29423242 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.61 |
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