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Molecular investigation in Chinese patients with primary carnitine deficiency.

Yanghui ZhangHaoxian LiJing LiuHuiming YanQin LiuXianda WeiHui XiZhengjun JiaLingqian WuHua Wang
Published in: Molecular genetics & genomic medicine (2019)
We identified 13 variants in the SLC22A5 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 of SLC22A5 and the understanding of the diverse and variable effects of PCD variants.
Keyphrases
  • copy number
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • peritoneal dialysis
  • patient reported outcomes
  • dna methylation