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المؤلفون: Shuizhen Zhou, Lei Zhao, Yiyun Shi, Chaoping Hu, Xihua Li
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatricsمصطلحات موضوعية: medicine.medical_specialty, phenotype, genotype, medicine.disease_cause, Pediatrics, Gastroenterology, RJ1-570, Exon, Internal medicine, Genotype, medicine, Missense mutation, Original Research, CLCN1, Mutation, biology, Myotonia congenita, business.industry, CLCN1 gene, mutations, medicine.disease, Myotonia, Muscle relaxation, Pediatrics, Perinatology and Child Health, biology.protein, business, myotonia congenita
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50233ecf9a7710d315dc5702eab02f43Test
https://doi.org/10.3389/fped.2021.759505Test -
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المؤلفون: Yi Wang, Yiyun Shi, Shuizhen Zhou, Chaoping Hu, Xihua Li, Lei Zhao
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mitochondrial DNA, Cardiomyopathy, Gene mutation, Gastroenterology, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Internal medicine, cytochrome-c oxidase, medicine, gene mutation, Risk factor, lcsh:Neurology. Diseases of the nervous system, treatment, Genetic heterogeneity, business.industry, mitochondrial myopathy, medicine.disease, 030104 developmental biology, Neurology, Respiratory failure, pathology, Neurology (clinical), Chronic progressive external ophthalmoplegia, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb743bfdff4b13fc6cc0e3912ce7d40Test
https://doi.org/10.3389/fneur.2020.01000Test