Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.

doi:10.1002/humu.1380060104

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Article

Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.

Human mutation - 1 Jan 1995

Bikker H, Vulsma T, Baas F, de Vijlder J J

Abstract excerpt

Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones. Defects in the TPO gene are reported to be the cause of congenital hypothyroidism due to a Total Iodide Organification Defect (TIOD). This type of defect, where iodide taken up by the thyroid gland cannot be oxidized...

Topics

Base Sequence
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Exons
Genetic Linkage
Humans
Hypothyroidism
Iodide Peroxidase
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic

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