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Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

机译：在先天性甲状腺功能亢进患者中TSHR铰链区新序列变体P.S304R的功能表征，与该基因部分的其他以前已知的突变类比

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Taise Lima Oliveira Cerqueira; Aurore Carré; Lucie Chevrier; Gabor Szinnai; Elodie Tron; Juliane Léger; Sylvie Cabrol; Chrystelle Queinnec; Nicolas De Roux; Mireille Castanet; Michel Polak; Helton Estrela Ramos;
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1. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion [J] . Oliveira Cerqueira Taise Lima, Carre Aurore, Chevrier Lucie, Journal of pediatric endocrinology & metabolism: JPEM . 2015 ,第7a8期

机译：先天性甲状腺功能减退症患者中TSHR铰链区的新型序列变体p.S304R的功能表征，并与该基因部分的其他先前已知突变类似
2. Iodide Transport Defect: Functional Characterization of a Novel Mutation in the Na+/I? Symporter 5′-Untranslated Region in a Patient with Congenital Hypothyroidism [J] . Juan Pablo Nicola, Magalí Nazar, Caroline Serrano-Nascimento, The journal of clinical endocrinology and metabolism . 2011 ,第7期

机译：碘化物运输缺陷：Na + / I中的新突变的功能表征？具有先天性甲状腺功能亢进的患者中的叙述者5'-过期的区域
3. Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. [J] . Esperante SA, Rivolta CM, Miravalle L, Clinical Endocrinology . 2008 ,第5期

机译：先天性甲状腺功能低下和甲状腺功能不全的患者中四种PAX8稀有序列变异体（p.T225M，p.L233L，p.G336S和p.A439A）的鉴定和表征。
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. Genetic engineering of two Escherichia coli strains designed to bioaccumulate copper and cadmium: Construction, characterization, and mutational analysis of key regions involved in high affinity metal binding. [D] . Zagorski, Nicholas. 2003

机译：设计用于生物积累铜和镉的两种大肠杆菌菌株的基因工程：涉及高亲和力金属结合的关键区域的构建，表征和突变分析。
6. Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients [O] . Peng Xue, Yuqi Yang, Qi Yun, 2021

机译：TSHR的变体不是中国汉汉患者先天性甲状腺功能亢进的常见原因
7. Iodide Transport Defect: Functional Characterization of a Novel Mutation in the Na(+)/I(-) Symporter 5 `-Untranslated Region in a Patient with Congenital Hypothyroidism [O] . NICOLA, Juan Pablo, NAZAR, Magali, SERRANO-NASCIMENTO, Caroline, 2011

机译：碘化物运输缺陷：先天性甲状腺功能减退症患者Na（+）/ I（-）转运蛋白5'-非翻译区的新型突变的功能表征。

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

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