An exonic splicing enhancer mutation in DUOX2 causes aberrant alternative splicing and severe congenital hypothyroidism in Bama pigs

Pigs share many similarities with humans in terms of anatomy, physiology and genetics, and have long been recognized as important experimental animals in biomedical research. Using an N-ethyl-N-nitrosourea (ENU) mutagenesis screen, we previously identified a large number of pig mutants, which could...

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Opis bibliograficzny
Główni autorzy: Chunwei Cao, Ying Zhang, Qitao Jia, Xiao Wang, Qiantao Zheng, Hongyong Zhang, Ruigao Song, Yongshun Li, Ailing Luo, Qianlong Hong, Guosong Qin, Jing Yao, Nan Zhang, Yanfang Wang, Hongmei Wang, Qi Zhou, Jianguo Zhao
Format: Artigo
Język:Inglês
Wydane: The Company of Biologists 2019-01-01
Seria:Disease Models & Mechanisms
Hasła przedmiotowe:
Pigs
Animal model
ENU
Exome sequencing
Congenital hypothyroidism
Dostęp online:http://dmm.biologists.org/content/12/1/dmm036616
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