Article

Novel TUBB1 Mutation Related To Thyroid Dysgenesis In 289 Chinese Patients

2022-01-31

Abstract excerpt

<h4>Objective: </h4> We aimed to study the types and characteristics of TUBB1 mutations in a large Chinese cohort with congenital hypothyroidism (CH) and thyroid dysgenesis (TD). <h4>Methods: </h4>: Mutation of the entire coding region of TUBB1 was analysed by Sanger sequencing in 289 children with CH and TD from China. Functional studies were further used to identify the effect of novel mutations on thyroid cells...

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Literature Corpus work: c7692592-8d70-5588-a6c3-a94eaf157b0d
DOI: 10.21203/rs.3.rs-1290735/v1

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