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Genetic Modifiers of Duchenne Muscular Dystrophy in Chinese Patients

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成果类型:
期刊论文
作者:
Chen, Menglong;Wang, Liang;Li, Yaqin;Chen, Yongjun;Zhang, Huili;...
通讯作者:
Zhang, Cheng;Zhang, Yu
作者机构:
[Zhang, Cheng; Lin, Jinfu; Li, Huan; Wang, Liang; Zhu, Yuling; Chen, Menglong; He, Ruojie] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou, Peoples R China.
[Chen, Menglong] Natl Key Clin Dept, Guangdong Prov Key Lab Diag & Treatment Major Neu, Guangzhou, Peoples R China.
[Chen, Menglong] Key Discipline Neurol, Guangzhou, Peoples R China.
[Zhang, Yu; Chen, Menglong] Jinan Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou, Peoples R China.
[Li, Yaqin] Sun Yat Sen Univ, Affiliated Hosp 7, Dept Neurol, Shenzhen, Peoples R China.
通讯机构:
[Zhang, Cheng] S
[Zhang, Yu] J
Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou, Peoples R China.
Jinan Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou, Peoples R China.
语种:
英文
关键词:
Duchenne muscular dystrophy;genetic modifiers;LTBP4;single nucleotide polymorphisms;SPP1
期刊:
FRONTIERS IN NEUROLOGY
ISSN:
1664-2295
年:
2020
卷:
11
页码:
528704
基金类别:
The authors thank all individuals for their participation. We would like to thank Editage [www.editage.cn] for English language editing. Funding. The study was funded by the National Natural Science Foundation of China (Grant Nos. 81901280, 81771359, 81801246, and 81471280), the Guangdong Provincial Science and Technology Plan (2017A020215094), the Natural Science Foundation of Guangdong Province (2018A030313636), the Southern China International Cooperation Base for Early Intervention and Functional Rehabilitation of Neurological Diseases (2015B050501003), Guangdong Provincial Engineering Center For Major Neurological Disease Treatment, Guangdong Provincial Translational Medicine Innovation Platform for Diagnosis and Treatment of Major Neurological Disease, and Guangdong Provincial Clinical Research Center for Neurological Diseases.
机构署名:
本校为其他机构
院系归属:
医学院
摘要:
Background: Duchenne muscular dystrophy (DMD) is a fatal, X-linked recessive muscle disorder characterized by heterogeneous progression and severity. We aimed to study the effects of single nucleotide polymorphisms (SNPs) in SPP1 and LTBP4 on DMD progression in Chinese patients. Methods: We genotyped LTBP4 haplotypes and the SPP1 promoter SNPs rs28357094, rs11730582, and rs17524488 in 326 patients registered in the neuromuscular database of The First Affiliated Hospital of Sun Yat-sen University. Kaplan-Meier curves and log-rank tests were used...

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