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March 1, 2000Human MutationOpen Access

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

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Authors

YWYuhuan WangMKMichelle A. KellyTCTina M. Cowan

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Wang et al. (2000) studied this question.

synapsesocial.com/papers/6ab32aabf075177e3bb39b7chttps://doi.org/10.1002/(sici)1098-1004(200003)15:3<238::aid-humu4>3.0.co;2-3
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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 the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency1999 · 198 citations
  2. 2Activation of glucose transport by a natural mutation in the human insulin receptor.1993 · 38 citations
  3. 3Sudden neonatal death in carnitine transporter deficiency1997 · 64 citations
  4. 4Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency1999 · 157 citations