Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency

BACKGROUND: The aim of this study was to perform gene detection in 2 clinical cases of highly suspected ornithine transcarbamylase deficiency (OTCD) pediatric patients by first-generation sequencing technology in order to confirm the pathogenic genetic factors of their families and allow the familie...

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Detalles Bibliográficos
Autores principales: Li, Sitao, Cai, Yao, Shi, Congcong, Liu, Mengxian, Liu, Bingqing, Lin, Lin, Xiao, Xin, Hao, Hu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2018
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354644/
https://www.ncbi.nlm.nih.gov/pubmed/30333473
http://dx.doi.org/10.12659/MSM.911295

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