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Sidhu M, Brady L, Vladutiu GD, et al. Novel heterozygous mutations in the . Mol Genet Metab Rep. 2018;17:53-55doi: 10.1016/j.ymgmr.2018.09.009.
Sidhu, M., Brady, L., Vladutiu, G. D., & Tarnopolsky, M. A. (2018). Novel heterozygous mutations in the . Molecular genetics and metabolism reports, 1753-55. https://doi.org/10.1016/j.ymgmr.2018.09.009
Sidhu, M, et al. "Novel heterozygous mutations in the ." Molecular genetics and metabolism reports vol. 17 (2018): 53-55. doi: https://doi.org/10.1016/j.ymgmr.2018.09.009
Sidhu M, Brady L, Vladutiu GD, Tarnopolsky MA. Novel heterozygous mutations in the . Mol Genet Metab Rep. 2018 Oct 09;17:53-55. doi: 10.1016/j.ymgmr.2018.09.009. eCollection 2018 Dec. PMID: 30310767; PMCID: PMC6178239.
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Mol Genet Metab Rep. 2018 Oct 09;17:53-55. doi: 10.1016/j.ymgmr.2018.09.009. eCollection 2018 Dec.

Novel heterozygous mutations in the .

Molecular genetics and metabolism reports

M Sidhu, L Brady, G D Vladutiu, M A Tarnopolsky

Affiliations

  1. Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
  2. Departments of Pediatrics, Neurology, and Pathology & Anatomical Sciences, University at Buffalo, Buffalo, NY 14214, USA.
  3. Department of Medicine, McMaster University, Hamilton, ON, Canada.

PMID: 30310767 PMCID: PMC6178239 DOI: 10.1016/j.ymgmr.2018.09.009

Abstract

Pathogenic variants in the

References

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