TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

OBJECTIVE: Bi-allelic loss-of-function mutations in TSHB, encoding the beta subunit of thyroid-stimulating hormone (TSH), cause congenital hypothyroidism. Homozygosity for the TSHB p.R75G variant, previously described in South Asian individuals, does not alter TSH function but abrogates its detectio...

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Detalles Bibliográficos
Autores principales: Shaki, David, Eskin-Schwartz, Marina, Hadar, Noam, Bosin, Emily, Carmon, Lior, Refetoff, Samuel, Hershkovitz, Eli, Birk, Ohad S, Haim, Alon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9142811/
https://www.ncbi.nlm.nih.gov/pubmed/34981755
http://dx.doi.org/10.1530/ETJ-21-0072

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