Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees

被引：0
|
作者：
Yaojun Xie [1 ]
Keyi Li [2 ]
Li Yang [3 ]
Xiaofei Zeng [4 ]
Zhehui Chen [3 ]
Xue Ma [5 ]
Luyi Zhang [5 ]
Yuwei Zhou [3 ]
Liqin Jin [3 ]
Yanling Yang [6 ]
Xiaoting Lou [5 ]
机构：
[1] Zhejiang Provincial People’s Hospital,Laboratory Medicine Center, Department of Genetic and Genomic Medicine
[2] Affiliated People’s Hospital,Genetics Center of Obstetrics and Gynecology
[3] Hangzhou Medical College,Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences
[4] Obstetrics and Gynecology Hospital of Fudan University,Department of Pediatrics, Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital
[5] Wenzhou Medical University,Department of Pediatrics
[6] Central South University,Department of Scientific Research
[7] Peking University First Hospital,undefined
[8] Zhejiang Provincial People’s Hospital,undefined
[9] Affiliated People’s Hospital,undefined
[10] Hangzhou Medical College,undefined
来源：
Orphanet Journal of Rare Diseases | / 19卷 / 1期
关键词：
Mitochondrial diseases; Oxidative phosphorylation; Genetic hotspot; τm; (s; )U modification;
D O I：
10.1186/s13023-024-03469-3
中图分类号：
学科分类号：
摘要：
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