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SKU: 52273640010
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Rating: 4.7182 (18 reviews)

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2024 Oct 7;14(16):6373-6391

10.1097/MPH.0000000000000435 J Pediatr Hematol Oncol

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent arg282ter mutation associated with an unconventional splicing abnormality