Resistance to Thyroid Hormone in Subjects from Two Unrelated Families Is Associated with a Point Mutation in the Thyroid Hormone Receptor β Gene Resulting in the Replacement of the Normal Proline 453 with Serine

Thyroid ◽  
1994 ◽  
Vol 4 (3) ◽  
pp. 249-254 ◽  
Author(s):  
SAMUEL REFETOFF ◽  
ROY E. WEISS ◽  
JEFFREY R. WING ◽  
DAVID SARNE ◽  
BRENT CHYNA ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

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

A New Point Mutation (M313T) in the Thyroid Hormone Receptor β Gene in a Patient with Resistance to Thyroid Hormone

Thyroid ◽  
1997 ◽  
Vol 7 (1) ◽  
pp. 43-44 ◽  
Author(s):  
MAURICIO DI FULVIO ◽  
ANA E. CHIESA ◽  
SERGIO E. BARANZINI ◽  
LAURA GRUÑIERO-PAPENDIECK ◽  
ANA M. MASINI-REPISO ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

A Novel Point Mutation in Cluster 3 of the Thyroid Hormone Receptor β Gene (P247L) Causing Mild Resistance to Thyroid Hormone

Thyroid ◽  
1999 ◽  
Vol 9 (12) ◽  
pp. 1195-1203 ◽  
Author(s):  
JOACHIM POHLENZ ◽  
LAURA MANDERS ◽  
PETER M. SADOW ◽  
PRAKASH C. KANSAL ◽  
SAMUEL REFETOFF ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

A Novel Resistance to Thyroid Hormone Associated with a New Mutation (T329N) in the Thyroid Hormone Receptor β Gene

Thyroid ◽  
1999 ◽  
Vol 9 (2) ◽  
pp. 165-171 ◽  
Author(s):  
GAIANE SARKISSIAN ◽  
ALEXANDRA DACE ◽  
ANNE MESMACQUE ◽  
HELENE BONY-TRIFUNOVIC ◽  
CHRISTIANE MALEZET-DESMOULINS ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
New Mutation ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

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
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