A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.

Tang N.L.WUH-LIANG HWUChan R.T.Law L.K.Fung L.M.Zhang W.M.2020-12-162020-12-1620021098-1004https://www.scopus.com/inward/record.uri?eid=2-s2.0-18244420879&doi=10.1002%2fhumu.9053&partnerID=40&md5=b9002a6b4797d6e54a8853ec75276f72https://scholars.lib.ntu.edu.tw/handle/123456789/526068A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.journal article10.1002/humu.9053122040002-s2.0-18244420879