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Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
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Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394.
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PubMed
subject areas
Amino Acid Substitution
Congenital Hypothyroidism
Humans
Infant
Male
Mutation, Missense
Protein Domains
Protein Multimerization
Thyrotropin, beta Subunit
authors with profiles
Samuel Refetoff
Alexandra M. Dumitrescu
Roy Emanuel Weiss