IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.

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IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.

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IBA57 mutations abrogate iron- ...... avitating leukoencephalopathy.

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IBA57 mutations abrogate iron- ...... avitating leukoencephalopathy.

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IBA57 mutations abrogate iron- ...... avitating leukoencephalopathy.

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P1476

IBA57 mutations abrogate iron- ...... avitating leukoencephalopathy.

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Akihiko Ishiyama

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Chika Sakai

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Eiji Nakagawa

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Hirofumi Komaki

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Ichizo Nishino

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Ikuya Nonaka

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Kenji Sugai

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Masayuki Sasaki

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Noriko Sato

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Satomi Mitsuhashi

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P2860

Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism

Specialized function of yeast Isa1 and Isa2 proteins in the maturation of mitochondrial [4Fe-4S] proteins.

Mitochondrial Iba57p is required for Fe/S cluster formation on aconitase and activation of radical SAM enzymes.

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Structure, function, and formation of biological iron-sulfur clusters

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

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e184

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scholarly article

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10.1212/NXG.0000000000000184

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P478

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2017-09-08T00:00:00Z

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28913435

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5591399

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