|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
|
16684826 |
2006 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
|
16284446 |
2005 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.
|
12843174 |
2003 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.
|
12864797 |
2003 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
|
12938097 |
2003 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.
|
12213873 |
2002 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
|
11916616 |
2002 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.
|
12490071 |
2002 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.
|
11874711 |
2002 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.
|
11415848 |
2001 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).
|
11061528 |
2000 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.
|
10468986 |
1999 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.
|
9924196 |
1999 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
|
10084596 |
1999 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.
|
9024270 |
1997 |
|
Deficiency of iodide peroxidase (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.
|
7550241 |
1995 |