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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 Dumitrescu
Roy Emanuel Weiss