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Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency

IMPORTANCE: Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA (HMG‐CoA) synthase deficiency is a rare and underdiagnosed disorder with fewer than 30 patients reported worldwide. The application of whole‐exome sequencing in patients could improve our understanding of this disorder. OBJECTIVE: To identify...

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Detalles Bibliográficos
Autores principales:	Zhang, Pengfei, Hu, Xuyun, Guo, Ruolan, Guo, Jun, Li, Wei, Qian, Suyun, Hao, Chanjuan, Liu, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331301/ https://www.ncbi.nlm.nih.gov/pubmed/32851297 http://dx.doi.org/10.1002/ped4.12130

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