A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism

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A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism

机译：导致先天性甲状腺功能减退的DUOXA2基因中新的c.554 + 5C> T突变与DUOX2基因中的p.R885Q突变结合

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《Journal of Clinical Research in Pediatric Endocrinology 》 |2016年第2期| 共4页
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1. Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism [J] . Zheng Xiao, Ma Shao-Gang, Guo Man-Li, Yonsei Medical Journal . 2017 ,第4期

机译：DUOX2 / DUOXA2基因中的复合杂合突变导致先天性甲状腺功能减退症
2. DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom [J] . Peters Catherine, Nicholas Adeline K., Schoenmakers Erik, Thyroid: official journal of the American Thyroid Association . 2019 ,第6期

机译：Duox2 / Duoxa2突变经常引起先天性甲状腺功能亢进症，即逃离英国新生儿筛查的检测
3. Compound heterozygous DUOX2 gene mutations (c.2335-1G > C/c.3264_3267de1CAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis [J] . Belforte Fiorella S., Citterio Cintia E., Testa Graciela, Molecular and Cellular Endocrinology . 2016 ,第期

机译：化合物杂合子Duox2基因突变（C.335-1G> C / C.3264_3267DE1cagc）与先天性甲状腺功能亢进相关。小烯分析复杂隐秘剪接位点的表征
4. Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome [C] . Katsiaryna Belaya, Sarah Finlayson, Judith Cossins, International Conference on Myasthenia Gravis and Related Disorders . 2012

机译：鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
5. A Multi-Scale Computational Approach to Understand the Calcium Dynamics and Arrhythmogenic Disorders Caused by Mutations in RYR2/CASQ2 Expressing Genes [D] . Paudel, Roshan. 2020

机译：一种多规模的计算方法，了解Ryr2 / Casq2在表达基因中突变引起的钙动力学和心律发生障碍
6. A Novel c.554+5CT Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism [O] . Xiao Zheng, Shao-Gang Ma, Ya-Li Qiu, 2016

机译：导致先天性甲状腺功能减退的DUOXA2基因中新的c.554 + 5C T突变与DUOX2基因中的p.R885Q突变结合
7. DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism [O] . Fengqi Wang, Yucui Zang, Miaomiao Li, 2020

机译：Duox2和Duoxa2变体与先天性甲状腺功能亢进的甲状腺功能生量和腺体原位发布易感性

A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism

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