A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (<i>THOX2</i>) and Congenital Hypothyroidism

J.C. Moreno, Hennie Bikker, Marlies Kempers et al. · New England Journal of Medicine · 2002 · 478 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA

Yves Malthièry, Serge Lissitzky · European Journal of Biochemistry · 1987 · 325 citations

Life Sciences, Biochemistry, Molecular Biology +15

Antibody interference in thyroid assays: a potential for clinical misinformation

N. Després, Andrew Grant · Clinical Chemistry · 1998 · 268 citations · Full text

Life Sciences, Endocrinology, Autoimmunity +14

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

Tamio Ieiri, Pascale Cochaux, Héctor M. Targovnik et al. · Journal of Clinical Investigation · 1991 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11