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[DOI] [PubMed] [Google Scholar] 74.Kraemer W.J., Volek J.S

12 In addition, there is an unusually high frequency of homozygosity for mutations in the SLC22A5 gene in families of patients with primary carnitine deficiency and no known consanguinity, 6,9,1214 including a new patient (Patient 268) reported in this study

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