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Description
Carriers typically do not have symptoms of SPCD because their one normal gene produces enough of the OCTN2 transporter protein [1]
doi: 10.1016/j.bbamem.2006.04.006
Clinical judgment matters
Maestri, A., De Pasquale Ceratti, A., Cundari, S., Zanna, C., Cortesi, E., Crin, L., 2005
