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Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China

Primary carnitine deficiency (PCD) is an autosomal recessive disorder that could result in sudden death. It is caused by a defect in the carnitine transporter encoded by SLC22A5 (Solute Carrier Family 22 Member 5, MIM:603377). Currently, a number of variants in SLC22A5 have been identified, however,...

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Detalles Bibliográficos
Autores principales:	Yang, Xiangchun, Li, Qiong, Wang, Fei, Yan, Lulu, Zhuang, Danyan, Qiu, Haiyan, Li, Haibo, Chen, Liang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264545/ https://www.ncbi.nlm.nih.gov/pubmed/34249102 http://dx.doi.org/10.3389/fgene.2021.686137

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