|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
|
19268523 |
2009 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
|
16804041 |
2006 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two resistance to thyroid hormone mutants with impaired hormone binding.
|
12554782 |
2003 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal ligand-binding domain.
|
12511610 |
2003 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
10660344 |
1998 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.
|
8664910 |
1996 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.
|
8889584 |
1996 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.
|
7833659 |
1994 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
|
8175986 |
1994 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.
|
8514853 |
1993 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone.
|
1587388 |
1992 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome.
|
1563081 |
1992 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
1619012 |
1992 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.
|
1314846 |
1992 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.
|
1324420 |
1992 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.
|
1846005 |
1991 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two ""hot spot"" regions of the ligand binding domain."
|
1661299 |
1991 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.
|
2153155 |
1990 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.
|
2510172 |
1989 |
|
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|