Literature DB >> 11013457

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

Y Y van der Hoek1, M W Mul-Steinbusch, P H Slee.   

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Year:  2000        PMID： 11013457     DOI： 10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

Review 1.  Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Authors:  Paola Concolino; Alessandra Costella; Rosa Maria Paragliola
Journal:  Mol Diagn Ther       Date:  2019-06       Impact factor: 4.074

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

Authors:  Ji Hye Kim; Tae Sun Park; Hong Sun Baek; Gu Hwan Kim; Han Wook Yoo; Ji Hyun Park
Journal:  J Korean Med Sci       Date:  2007-06       Impact factor: 2.153
  2 in total

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