Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes
Objective: To explore the phenotype and genotype of mitochondrial DNA depletion syndromes (MDS) in Chinese children. Methods: The clinical and genetic data of 12 MDS patients (8 were boys and 4 were girls) diagnosed in the Department of Neurology in Beijing Children's Hospital, Capital Medical...
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Détails bibliographiques
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 57(2019), 3 vom: 02. März, Seite 211-216
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| Auteur principal: |
Dai, L F
(Auteur) |
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| Autres auteurs: |
Fang, F,
Liu, Z M,
Shen, D M,
Ding, C H,
Li, J W,
Ren, X T,
Wu, H S |
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| Format: | Article en ligne
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| Langue: | Chinese |
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| Publié: |
2019
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Sujets: | Journal Article
DNA, mitochondrial
Genes
Retrospective studies
DNA, Mitochondrial
Succinate-CoA Ligases
EC 6.2.1.-
SUCLA2 protein, human
EC 6.2.1.5 |
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