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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

机译：TG基因的新突变（G2322S）引起苏丹家庭的先天性甲状腺功能减退

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BackgroundCongenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis.

机译：背景先天性甲状腺功能减退症（CH）的发病率约为1：3000，但只有15％的甲状腺激素合成途径发生突变。遗传分析可以进行精确的诊断。

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期刊名称 BMC Medical Genetics
作者
Y. Watanabe; E. Sharwood; B. Goodwin; M. K. Creech; H. Y. Hassan; M. G. Netea; M. Jaeger; A. Dumitrescu; S. Refetoff; T. Huynh; R. E. Weiss;
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年(卷),期 2018(19),-1
年度 2018
页码 69
总页数 8
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Congenital hypothyroidism Goiter Novel mutations Thyroglobulin TG;

机译：先天性甲状腺功能减退;甲状腺肿;新型突变;甲状腺球蛋白;TG;

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专利

1. A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report [J] . Y. Watanabe, E. Sharwood, B. Goodwin, BMC Medical Genetics . 2018,第1期

机译：TG基因的新突变（G2322S）引起苏丹家庭的先天性甲状腺功能减退
2. A Novel Missense Mutation in SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism [J] . Watanabe Yui, Ebrhim Reham S., Abdullah Mohamed A., Thyroid: official journal of the American Thyroid Association . 2018,第8期

机译：先天性甲状腺功能减退症的苏丹家庭SLC5A5基因的一种新的畸形突变
3. A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes. [J] . Lado Abeal J, Castro Piedras I, Palos Paz F, Thyroid: official journal of the American Thyroid Association . 2011,第2期

机译：由甲状腺激素受体功能丧失突变和刺激腺苷酸环化酶的Gα蛋白亚基基因组合引起的先天性甲状腺功能减退的家庭。
4. CORNEAL DYSTROPHY CAUSED BY A NOVEL MUTATION OF THE TGFBl GENE: A CASE REPORT [C] . B. Stix, J. ROschoff, A. Roessner, International Symposium on Amyloidosis . 2005

机译：由TGFBL基因的新突变引起的角膜营养不良：案例报告
5. Extending Mendelian mutation prediction models that predict if one has a disease-causing mutation based on family history of disease. [D] . Katki, Hormuzd A. 2006

机译：扩展孟德尔突变预测模型，该模型可根据疾病家族史预测是否存在致病突变。
6. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism [O] . Yui Watanabe, Reham S. Ebrhim, Mohamed A. Abdullah, -1

机译：一个先天性甲状腺功能减退的苏丹家庭中SLC5A5基因的新型错义突变。
7. Phenotypic Variation Among Four Family Members with Congenital Hypothyroidism Caused by Two Distinct Thyroglobulin Gene Mutations [O] . Viviane Pardo, Ileana G.S. Rubio, Meyer Knobel, 2008

机译：四个家庭成员的表型变异，其具有两个不同甲基罗蛋白基因突变引起的先天性甲状腺功能亢进症

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

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