Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.

Generalized resistance to thyroid hormone (GRTH) is a syndrome of variable reduction of tissue responsiveness to thyroid hormone. 28 different point mutations in the human thyroid hormone receptor beta (TR beta) gene have been associated with GRTH. These mutations are clustered in two regions of the...

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Hlavní autoři: Weiss, R E, Weinberg, M, Refetoff, S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC443299/
https://ncbi.nlm.nih.gov/pubmed/8514853
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