A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation

Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and impairment of TG synthesis. Genomic DNA sequencing revealed a homozygous c.886...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2005-06, Vol.90 (6), p.3766-3770
Hauptverfasser:	Rivolta, Carina M., Moya, Christian M., Gutnisky, Viviana J., Varela, Viviana, Miralles-García, José M., González-Sarmiento, Rogelio, Targovnik, Héctor M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino Acid Substitution Base Sequence Biological and medical sciences Endocrinopathies Exons - genetics Fundamental and applied biological sciences. Psychology Genetic Variation Goiter - congenital Goiter - genetics Homozygote Humans Hypothyroidism - genetics Medical sciences Molecular Sequence Data Mutation, Missense Non tumoral diseases. Target tissue resistance. Benign neoplasms Polymorphism, Single Nucleotide Reference Values Reverse Transcriptase Polymerase Chain Reaction Thyroglobulin - genetics Thyroid. Thyroid axis (diseases) Vertebrates: endocrinology
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