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A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation

机译：一种新的先天性甲状腺功能亢进甲状腺功能亢进的案例，由甲状腺蛋白基因的外显子7中的纯合P.R2777突变引起：突变热点可以解释这种突变的复发

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Carina M. Rivolta; Christian M. Moya; Viviana J. Gutnisky; Viviana Varela; José M. Miralles-García; Rogelio González-Sarmiento; Héctor M. Targovnik;
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1. Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T (p.R2317X) mutation and expression of minigenes containing nonsense mutations in exon 7. [J] . Machiavelli GA, Caputo M, Rivolta C Clinical Endocrinology . 2010,第1期

机译：先天性甲状腺功能低下的甲状腺球蛋白合成引起的甲状腺功能低下的分子分析。鉴定新的c.7006C> T（p.R2317X）突变，并在外显子7中表达含有无意义突变的小基因。
2. Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 [J] . Gloria A. Machiavelli, Mariela Caputo, Carina M. Rivolta, Clinical Endocrinology . 2010,第1期

机译：先天性甲状腺功能低下的甲状腺球蛋白合成引起的甲状腺功能低下的分子分析。新的c.7006C> T [p.R2317X]突变的鉴定和外显子7中包含无意义突变的小基因的表达
3. Novel compound heterozygous Thyroglobulin mutations c.745+1G > A/c.7036+2T > A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5 ' splice site in the exon 6 [J] . Citterio Cintia E., Morales Cecilia M., Bouhours-Nouet Natacha, Molecular and Cellular Endocrinology . 2015,第3期

机译：越南家庭中新的复合杂合甲状腺球蛋白突变c.745 + 1G> A / c.7036 + 2T> A与先天性甲状腺肿和甲状腺功能低下有关。鉴定外显子6中一个新的5'隐性剪接位点
4. Mutation Analysis of MESP2, HES7 and DUSP6 Gene Exons in Patients with Congenital Scoliosis [C] . Xu-sheng QIU, Song ZHOU, Him JIANG, International Research Society of Spinal Deformities . 2012

机译：立式脊柱症患者MES2，HES7和DUSP6基因外显子的突变分析
5. Adduct conformational polymorphism explains adduct mutational complexity based on studies of the major adduct of benzo(a)pyrene in a mutational hotspot. [D] . Jelinsky, Scott A. 1997

机译：加合物构象多态性基于突变热点中苯并（a）py的主要加合物的研究，解释了加合物突变的复杂性。
6. A 3 splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. [O] . T Ieiri, P Cochaux, H M Targovnik, 1991

机译：甲状腺球蛋白基因的3剪接位点突变导致先天性甲状腺功能减退症。
7. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms [O] . Mariela Caputo, Carina M Rivolta, Viviana J Gutnisky, 2007

机译：先天性甲状腺素和甲状腺功能亢进的无关家族中甲状腺蛋白基因中的p.R2777×p.R1511x复合杂合酶突变：使用腺体甲状腺素多态性单倍型分析

A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation

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