Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Guanxia Liang"'
Autor:
Yuqing Guan, Xiongda Liang, Wei Li, Wanying Lin, Guanxia Liang, Hongting Xie, Yu Hou, Yafang Hu, Xuan Shang
Publikováno v:
Skeletal Muscle, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Background Limb-girdle muscular dystrophy R8 (LGMD R8) is a rare autosomal recessive muscle disease caused by TRIM32 gene biallelic defects. The genotype–phenotype correlation of this disease has been reported poorly. Here, we report a Chi
Externí odkaz:
https://doaj.org/article/d5bd923ca56e4d98995f2bf2ea0e9165
Autor:
Linlin Xu, Dina Zhu, Yanxia Zhang, Guanxia Liang, Min Liang, Xiaofeng Wei, Xiaoqing Feng, Xuedong Wu, Xuan Shang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
BackgroundAnemia is one of the most common diseases affecting children worldwide. Hereditary forms of anemia due to gene mutations are difficult to diagnose because they only rely on clinical manifestations. In regions with high prevalence of thalass
Externí odkaz:
https://doaj.org/article/9221c64d9d104f9f850c904620328ade
Autor:
Dina Zhu, Linlin Xu, Yanxia Zhang, Guanxia Liang, Xiaofeng Wei, Liyan Li, Wangjie Jin, Xuan Shang
Publikováno v:
Molecular Genetics and Genomics. 298:131-141
Thalassemia is one of the most common single-gene disorder worldwide. An important genetic cause of thalassemia is copy number variations (CNVs) in the α-globin gene cluster. However, there is no unified summary and discussion on the detailed inform
Publikováno v:
British journal of haematologyREFERENCES. 200(1)
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease. 1869(1)
Hereditary spherocytosis (HS) is a common hematological genetic disorder that results in anemia, jaundice and splenomegaly. It is caused by mutations in the ANK1, SPTA, SPTB, SLC4A1 and EPB42 genes, which encode red blood cell membrane and skeletal p
Autor:
Linlin, Xu, Dina, Zhu, Yanxia, Zhang, Guanxia, Liang, Min, Liang, Xiaofeng, Wei, Xiaoqing, Feng, Xuedong, Wu, Xuan, Shang
Publikováno v:
Frontiers in Genetics
Background Anemia is one of the most common diseases affecting children worldwide. Hereditary forms of anemia due to gene mutations are difficult to diagnose because they only rely on clinical manifestations. In regions with high prevalence of thalas