Molecular investigation in Chinese patients with primary carnitine deficiency

ConclusionsWe identified 13 variants in theSLC22A5 in 24 PCD patients, and five of these variants are novel mutations. c.824+1G>A was confirmed to alter mRNA splicing by reverse transcription PCR. Furthermore, our findings broaden the mutation spectrum ofSLC22A5 and the understanding of the diverse and variable effects of PCD variants.

Source: Molecular Genetics & Genomic Medicine - July 29, 2019 Category: Genetics & Stem Cells Authors: Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang Tags: ORIGINAL ARTICLE Source Type: research