Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy

To investigate refractory hypercholesterolemia, a female patient and relatives were subjected to whole-genome sequencing. The proband was found to have compound heterozygous substitutions p. Arg446Gln and c.1118+3G>T in ABCG5, one of two genes causing sitosterolemia. When tracing these variants i...

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Detalles Bibliográficos
Autores principales: Deng, Libin, Xu, Jingsong, Chen, Wei, Guo, Shicheng, Steiner, Robert D., Chen, Qi, Cheng, Zhujun, Xu, Yanmei, Yao, Bei, Li, Xiaoyan, Wang, Xiaozhong, Deng, Keyu, Schrodi, Steven J., Zhang, Dake, Xin, Hongbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645579/
https://www.ncbi.nlm.nih.gov/pubmed/34880906
http://dx.doi.org/10.3389/fgene.2021.769699

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645579/
https://www.ncbi.nlm.nih.gov/pubmed/34880906
http://dx.doi.org/10.3389/fgene.2021.769699

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