TY  - GEN
AU  - Citterio,Cintia E
AU  - Rossetti,Liliana C
AU  - Souchon,Pierre F
AU  - Morales,Cecilia
AU  - Thouvard-Viprey,Mathilde
AU  - Salmon-Musial,Anne S
AU  - Mauran,Pierre L A
AU  - Doco-Fenzy,Martine
AU  - González-Sarmiento,Rogelio
AU  - Rivolta,Carina M
AU  - De Brasi,Carlos D
AU  - Targovnik,Héctor M
TI  - Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism
SN  - 1872-8057
PY  - 2014///0501
KW  - Base Sequence
KW  - Congenital Hypothyroidism
KW  - genetics
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Genetic Association Studies
KW  - Humans
KW  - Introns
KW  - Male
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Sequence Deletion
KW  - Sequence Inversion
KW  - Thyroglobulin
KW  - deficiency
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.mce.2013.07.034
ER  -