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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Detalles Bibliográficos
Autores principales: Hariharan, Nivedita, Ravi, Samathmika, Pradeep, Bulagonda Eswarappa, Subramanyam, Koushik Narayan, Choudhary, Bibha, Srinivasan, Subhashini, Khanchandani, Prakash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
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

Internet

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

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