Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism

The thyroglobulin (TG) gene encodes a protein required for thyroid hormone synthesis and iodine storage. Deleterious TG mutations produce congenital hypothyroidism (CH) often presenting with undetectable serum TG. Alu elements, common throughout the human genome, have a poly(dA) region in the 3′ end...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Thyroid
Hlavní autoři: Bruellman, Ryan, Watanabe, Yui, Shareef, Reham, Abdullah, Mohamed A., Dumitrescu, Alexandra, Strauss, Bernard S., Refetoff, Samuel, Weiss, Roy E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Mary Ann Liebert, Inc., publishers 2020
Témata:
Brief Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7232585/
https://ncbi.nlm.nih.gov/pubmed/31868128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2019.0636
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky