错义突变
先天性甲状腺功能减退
移码突变
胡说
无义突变
医学
内科学
外显子
突变
遗传学
内分泌学
基因
儿科
生物
甲状腺
作者
Marina Muzza,Sarah Rabbiosi,Maria Cristina Vigone,I. Zamproni,Valentina Cirello,Maria Antonia Maffini,Katia Maruca,Nadia Schoenmakers,Luciano Beccaria,Francesco Gallo,S.-M. Park,P. Beck‐Peccoz,Luca Persani,Giovanna Weber,Laura Fugazzola
摘要
Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect.
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