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A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome

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https://hal-normandie-univ.archives-ouvertes.fr/hal-02193599
Contributor : Eve Sorel <>
Submitted on : Wednesday, July 24, 2019 - 3:38:45 PM
Last modification on : Wednesday, December 4, 2019 - 9:52:02 AM

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Patrick Mordel, Stéphane Schaeffer, Quentin Dupas, Marie-Alice Laville, Marion Gérard, et al.. A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. Biochemical and Biophysical Research Communications, Elsevier, 2017, 494 (1-2), pp.133-137. ⟨10.1016/j.bbrc.2017.10.066⟩. ⟨hal-02193599⟩

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