دورية أكاديمية
Joubert syndrome type 17 caused by c.650G > A and c.956A > T mutations in C5orf42 gene in children: one case report
| العنوان: | Joubert syndrome type 17 caused by c.650G > A and c.956A > T mutations in C5orf42 gene in children: one case report |
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| المؤلفون: | YANG Chang⁃jian, JIANG Da⁃fei, LI Ren⁃ke, SHU Xiao⁃mei |
| المصدر: | Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 11, Pp 1052-1055 (2023) |
| بيانات النشر: | Tianjin Huanhu Hospital, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | heredodegenerative disorders, nervous system, gene, mutation, child, case reports, Neurology. Diseases of the nervous system, RC346-429 |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Chinese |
| تدمد: | 1672-6731 |
| Relation: | http://www.cjcnn.org/index.php/cjcnn/article/view/2791; https://doaj.org/toc/1672-6731 |
| DOI: | 10.3969/j.issn.1672⁃6731.2023.11.015 |
| URL الوصول: | https://doaj.org/article/7d1189d45d9f4fe8ae766b497ddc7548 |
| رقم الأكسشن: | edsdoj.7d1189d45d9f4fe8ae766b497ddc7548 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 16726731 |
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| DOI: | 10.3969/j.issn.1672⁃6731.2023.11.015 |