Targeted next-generation sequencing determined a novel <i>SGCG</i> variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.

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作者： Nam-Chung,Tran ^[1] ; Tuan Anh,Nguyen ^[2] ; Thanh Dat,Ta ^[3] ; Thinh Huy,Tran ^[4] ; Phuoc-Dung,Nguyen ^[3] ; Chi Dung,Vu ^[5] ; Van-Hung,Nguyen ^[2] ; The-Hung,Bui ^[6] ; Thanh Van,Ta ^[4] ; Van Khanh,Tran ^[3]

作者单位： Center for Gene and Protein Research Hanoi Medical University Hanoi Vietnam.;Hanoi Medical University Hanoi Vietnam.;University of Medicine & Pharmacy Vietnam National University Hanoi Vietnam. ^[1] Hanoi Medical University Hanoi Vietnam. ^[2] Center for Gene and Protein Research Hanoi Medical University Hanoi Vietnam. ^[3] Center for Gene and Protein Research Hanoi Medical University Hanoi Vietnam.;Hanoi Medical University Hanoi Vietnam. ^[4] Department of Medical Genetics, Metabolism &Endocrinology Vietnam National Children's Hospital Hanoi Vietnam. ^[5] Center for Gene and Protein Research Hanoi Medical University Hanoi Vietnam.;Center for Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet Karolinska University Hospital Stockholm Sweden. ^[6]

关键词 SGCG variant limb‐girdle muscular dystrophy type 2C sarcoglycanopathies targeted next‐generation sequencing

DOI 10.1002/ccr3.7025

PMID 36992678

发布时间 2024-09-15

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Clinical case reports

2023年11卷3期

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Targeted next-generation sequencing determined a novel <i>SGCG</i> variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.

Clinical case reports

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Clinical case reports

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Targeted next-generation sequencing determined a novel <i>SGCG</i> variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.

Clinical case reports

相似文献

Clinical case reports

相关期刊

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