A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.

1992 ◽  
Vol 75 (1) ◽  
pp. 213-217
Author(s):  
Y Shuto ◽  
I Wakabayashi ◽  
N Amuro ◽  
S Minami ◽  
T Okazaki
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Binding Domain ◽  
Resistance To Thyroid Hormone ◽  
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 new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.

1994 ◽  
Vol 78 (5) ◽  
pp. 1253-1256
Author(s):  
R E Weiss ◽  
B Chyna ◽  
P B Duell ◽  
Y Hayashi ◽  
T Sunthornthepvarakul ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Beta Gene ◽  
Receptor Beta

A Novel Point Mutation of Thyroid Hormone Receptor β Gene in a Family with Resistance to Thyroid Hormone

Thyroid ◽  
1997 ◽  
Vol 7 (5) ◽  
pp. 771-773 ◽  
Author(s):  
TOMOHISA NAGASHIMA ◽  
HIDEKI YAGI ◽  
KANJI NAGASHIMA ◽  
AKIHIRO SAKURAI ◽  
KAZUMICHI ONIGATA ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

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
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