Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis

Hypertriglyceridaemia is a very rare disorder caused by the mutations of LPL gene, with an autosomal recessive mode of inheritance. Here, we identified two unrelated Chinese patients manifested with severe hypertriglyceridaemia and acute pancreatitis. The clinical symptoms of proband 1 are more seve...

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Detalles Bibliográficos
Autores principales: Han, Peng, Wei, Guohong, Cai, Ke, Xiang, Xi, Deng, Wang Ping, Li, Yan Bing, Kuang, Shan, Dong, Zhanying, Zheng, Tianyu, Luo, Yonglun, Liu, Junnian, Guan, Yuanning, Li, Chen, Dey, Subrata Kumar, Liao, Zhihong, Banerjee, Santasree
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991700/
https://www.ncbi.nlm.nih.gov/pubmed/31901151
http://dx.doi.org/10.1111/jcmm.14768

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