Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1
Objective: To investigate the clinical features and gene variation characteristics of children with dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene associated spinal muscular atrophy with lower extremity predominant (SMALED) 1. Methods: The clinical data of 4 SMALED1 children admitted to Peking Un...
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Détails bibliographiques
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 61(2023), 2 vom: 02. Feb., Seite 154-158
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| Auteur principal: |
Yang, C J
(Auteur) |
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| Autres auteurs: |
Wang, S,
Tan, D D,
Liu, Y D,
Fan, Y B,
Wei, C J,
Song, D Y,
Zhu, Y,
Xiong, H |
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| Format: | Article en ligne
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| Langue: | Chinese |
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| Publié: |
2023
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Sujets: | English Abstract
Journal Article
DYNC1H1 protein, human
Cytoplasmic Dyneins
EC 3.6.4.2 |
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