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

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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Bibliographic Details
Main Authors: Xiangchun Yang, Qiong Li, Fei Wang, Lulu Yan, Danyan Zhuang, Haiyan Qiu, Haibo Li, Liang Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Genetics
Subjects:
primary carnitine deficiency
newborn screening
free carnitine
novel variants
SLC22A5
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.686137/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.686137/full

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