Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
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| Published in: | Scientific Reports Vol. 13 |
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| Main Authors: | , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English Japanese |
| Published: |
Springer Science and Business Media LLC
12.12.2023
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| ISSN: | 2045-2322 |
| Online Access: | Get full text |
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| Author | Nitchanund Tantisirivit Takanori Onuki Phawin Kor‐anantakul Chupong Ittiwut Tomohiro Matsuhashi Akira Ohtake Yohei Sugiyama Rungnapa Ittiwut Wuttichart Kamolvisit Waralee Dejputtawat Kanya Suphapeetiporn Vorasuk Shotelersuk Masaru Shimura Chulaluck Kuptanon Kei Murayama Nithiwat Vatanavicharn |
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| BackLink | https://cir.nii.ac.jp/crid/1870302167886374016$$DView record in CiNii |
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| SubjectTerms | Acidosis, Lactic ATP Synthase Function and Regulation Biochemistry, Genetics and Molecular Biology Biology DNA sequencing Endocrinology Exome sequencing FOS: Biological sciences Gene Genetic disorder Genetics Humans Lactic acidosis Leigh disease Life Sciences Male Medicine Metabolic disorder Mitochondria Mitochondrial disease Mitochondrial Diseases Mitochondrial DNA Mitochondrial Dynamics and Reactive Oxygen Species Regulation Mitochondrial Dysfunction Mitochondrial Encephalomyopathies Mitochondrial myopathy Mitochondrial Proteins Mitochondrial respiratory chain Mitochondrion Molecular biology Mutation Proband Q R Ribosomal Proteins RNA Methylation and Modification in Gene Expression Sanger sequencing Science |
| Title | Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder |
| URI | https://cir.nii.ac.jp/crid/1870302167886374016 |
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