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OCTN2 mRNA in fibroblasts from normal controls and patients with primary carnitine deficiency. PolyA RNA isolated from fibroblasts of normal controls or.

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Presentation on theme: "OCTN2 mRNA in fibroblasts from normal controls and patients with primary carnitine deficiency. PolyA RNA isolated from fibroblasts of normal controls or."— Presentation transcript:

1 OCTN2 mRNA in fibroblasts from normal controls and patients with primary carnitine deficiency. PolyA RNA isolated from fibroblasts of normal controls or patients homozygous (patient 10665) or compound heterozogous (patient 2996) for mutations in the SLC22A5 gene producing premature Stop codons were hybridized with the OCTN2 or the actin cDNA labeled with 32P. Note the marked decreased in OCTN2 mRNA caused by premature Stop codons. Source: Plasma Membrane Carnitine Transporter Defect, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: November 12, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved


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