scholarly journals Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

1991 ◽  
Vol 87 (2) ◽  
pp. 496-502 ◽  
Author(s):  
K Takeda ◽  
S Balzano ◽  
A Sakurai ◽  
L J DeGroot ◽  
S Refetoff
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Point Mutations ◽  
New Mutation ◽  
Resistance To Thyroid Hormone ◽  
Beta Gene ◽  
Receptor Beta

scholarly journals Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene

2008 ◽  
Vol 23 (1) ◽  
pp. 45 ◽  
Author(s):  
Ji Yon Kim ◽  
Eun Suk Choi ◽  
Jong Chan Lee ◽  
Kyung Uk Lee ◽  
Yeo Joo Kim ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Missense Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Beta Gene ◽  
Receptor Beta

scholarly journals A De Novo L330S Point Mutation in Thyroid Hormone Receptor Beta Gene in a Thai Female with Resistance to Thyroid Hormone.

1999 ◽  
Vol 46 (6) ◽  
pp. 825-829 ◽  
Author(s):  
SASITORN DITUDOMPO ◽  
BOONSONG ONGPHIPHADHANAKUL ◽  
SUWANNEE CHANPRASERTYOTIN ◽  
RAJATA RAJATANAVIN
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
De Novo ◽  
Resistance To Thyroid Hormone ◽  
Beta Gene ◽  
Receptor Beta

A novel familial variation of the thyroid hormone receptor beta gene (I276N) associated with resistance to thyroid hormone

Thyroid ◽  
2012 ◽  
pp. 120108055333001
Author(s):  
Alice Monzani ◽  
stefania moia ◽  
Flavia Prodam ◽  
Gillian Elisabeth Walker ◽  
Simonetta Bellone ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Beta Gene ◽  
Receptor Beta
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