Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.

Citterio, Cintia E

Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism. [electronic resource] - Molecular and cellular endocrinology Dec 2013 - 220-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1872-8057

10.1016/j.mce.2013.07.034 doi


Base Sequence
Congenital Hypothyroidism--genetics
Consanguinity
DNA Mutational Analysis
Genetic Association Studies
Humans
Introns
Male
Molecular Sequence Data
Pedigree
Polymorphism, Single Nucleotide
Sequence Deletion
Sequence Inversion
Thyroglobulin--deficiency