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Search Results - Arai‐Ichinoi, N.
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Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination
by
Sato, R.
,
Arai‐Ichinoi, N.
,
Kikuchi, A.
,
Matsuhashi, T.
,
Numata‐Uematsu, Y.
,
Uematsu, M.
,
Fujii, Y.
,
Murayama, K.
,
Ohtake, A.
,
Abe, T.
,
Kure, S.
Published in
Clinical genetics
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Articles
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Clinical Genetics
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Subjects
Delayed Myelination
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Fibroblasts
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Genetics & Heredity
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Life Sciences & Biomedicine
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Mitochondria
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Mutation
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Myelination
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Neurodevelopmental Disorders
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Pathogenicity
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Phosphorylase
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Pnpase
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Pnpt1
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Polynucleotide Phosphorylase
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Protein Transport
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Ribonucleic Acid
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Rna
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Rna Transport
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Science & Technology
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Skin
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Small Rna
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Wiley Online (Archive)
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Wiley-Blackwell Read & Publish Collection
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