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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
by
Paul, Antoine
,
Drecourt, Anthony
,
Petit, Floriane
,
Deguine, Delphine Dupin
,
Vasnier, Christelle
,
Oufadem, Myriam
,
Masson, Cécile
,
Bonnet, Crystel
,
Masmoudi, Saber
,
Mosnier, Isabelle
,
Mahieu, Laurence
,
Bouccara, Didier
,
Kaplan, Josseline
,
Challe, Georges
,
Domange, Christelle
,
Mochel, Fanny
,
Sterkers, Olivier
,
Gerber, Sylvie
,
Nitschke, Patrick
,
Bole-Feysot, Christine
,
Jonard, Laurence
,
Gherbi, Souad
,
Mercati, Oriane
,
Ben Aissa, Ines
,
Lyonnet, Stanislas
,
Rötig, Agnès
,
Delahodde, Agnès
,
Marlin, Sandrine
Published in
American journal of human genetics
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American Journal Of Human Genetics
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Subjects
Adolescent
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Adult
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Amino Acid Sequence
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Arh1
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Auditory Neuropathy
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Child, Preschool
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Fdxr
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Fe-S Cluster Synthesis
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Female
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Ferredoxin-Nadp Reductase - Chemistry
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Ferredoxin-Nadp Reductase - Genetics
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Ferredoxin-Nadp Reductase - Metabolism
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Genetic Complementation Test
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Genetics & Heredity
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Hearing Loss, Central - Enzymology
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Hearing Loss, Central - Genetics
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Hearing Loss, Central - Pathology
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Humans
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Iron - Metabolism
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Iron Overload
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Bacon - Elsevier - Global Sciencedirect-Openaccess
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