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Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing

Detalles Bibliográficos
Autores principales: Gupta, Neerja, Verma, Gaurav, Kabra, Madhulika, Bijarnia-Mahay, Sunita, Ganapathy, Aparna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057243/
https://www.ncbi.nlm.nih.gov/pubmed/29998879
http://dx.doi.org/10.4103/ijmr.IJMR_820_16