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January 1, 2000Human Mutation

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation

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Authors

YWYuhuan WangCentre National de la Recherche ScientifiqueFTFranco TaroniFondazione IRCCS Istituto Neurologico Carlo BestaBGBarbara GaravagliaFondazione IRCCS Istituto Neurologico Carlo Besta

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Wang et al. (2000) studied this question.

synapsesocial.com/papers/6a97f81dcfa25b768ec6319ahttps://doi.org/10.1002/1098-1004(200011)16:5<401::aid-humu4>3.0.co;2-j
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Mutations in Novel Organic Cation Transporter (OCTN2), an Organic Cation/Carnitine Transporter, with Differential Effects on the Organic Cation Transport Function and the Carnitine Transport Function1999 · 86 citations
  2. 2Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake1991 · 213 citations
  3. 3Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency1999 · 198 citations
  4. 4Facilitative glucose transporters1994 · 1,093 citations