N
Nahhit Motavalli Mukaddes
Publications - 2
Citations - 7
Nahhit Motavalli Mukaddes is an academic researcher. The author has contributed to research in topics: Thyroid function tests & Thyroid. The author has an hindex of 1, co-authored 2 publications receiving 7 citations.
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Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
Taner Bayraktaroglu,Janet Noel,Faruk Alagol,Nese Colak,Nahhit Motavalli Mukaddes,Samuel Refetoff +5 more
TL;DR: In this paper, a mutation in one allele of the thyroid hormone receptor beta gene (P453A) was identified, providing a genetic confirmation for the diagnosis of resistance to thyroid hormone (RTH).
Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone
Taner Bayraktaroglu,Janet Noel,Faruk Alagol,Nese Colak,Nahhit Motavalli Mukaddes,Samuel Refetoff +5 more
TL;DR: A mutation in one allele of the thyroid hormone receptor beta gene (P453A) was identified, providing a genetic confirmation for the diagnosis of RTH, potentially avoiding the need for protracted and expensive pituitary function testing.