一名甲状腺激素抵抗患者的甲状腺激素受体β出现新型突变（1653insC）。 - Suppr

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.

作者信息

van der Hoek Y Y, Mul-Steinbusch M W, Slee P H

机构信息

Department of Clinical Chemistry and Internal Medicine, St. Antonius Hospital, Nieuwegein, The Netherlands.

出版信息

Hum Mutat. 2000 Oct;16(4):375. doi: 10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q.

DOI:10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q

PMID:11013457

Abstract

摘要

相似文献

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.

Hum Mutat. 2000 Oct;16(4):375. doi: 10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q.

T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.

Hum Mutat. 1998;12(4):289.

A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.

Mol Genet Metab. 2000 Nov;71(3):520-6. doi: 10.1006/mgme.2000.3088.

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.

Mol Diagn. 2004;8(3):163-9.

Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.

Trends Endocrinol Metab. 2005 May-Jun;16(4):176-82. doi: 10.1016/j.tem.2005.03.008.

[Resistance to thyroid hormone].

Ugeskr Laeger. 2004 Jan 12;166(3):166-7.

Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.

Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):1. doi: 10.1038/ncpendmet0703.

Molecular analysis of human resistance to thyroid hormone syndrome.

Methods Mol Biol. 2002;202:129-52. doi: 10.1385/1-59259-174-4:129.

Case report: thyroid hormone resistance and its therapeutic challenges.

Curr Opin Pediatr. 2008 Aug;20(4):490-3. doi: 10.1097/MOP.0b013e328305e428.

A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone.

Thyroid. 1997 Feb;7(1):43-4. doi: 10.1089/thy.1997.7.43.

引用本文的文献

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Mol Diagn Ther. 2019 Jun;23(3):353-368. doi: 10.1007/s40291-019-00399-w.

A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

J Korean Med Sci. 2007 Jun;22(3):560-3. doi: 10.3346/jkms.2007.22.3.560.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.

作者信息

机构信息

出版信息