A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.

doi:10.1210/mend.6.7.1324420

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Article

A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.

Molecular endocrinology (Baltimore, Md.) - 1 Jul 1992

Behr M, Loos U

Abstract excerpt

Various point mutations in the c-erbA thyroid hormone receptor (TR) beta gene of unrelated kindreds have been reported to be responsible for different phenotypes of generalized thyroid hormone resistance. We now report a new point mutation, Td, in one of two TR beta alleles of three affected memb...

Topics

Alleles
Base Sequence
Female
Humans
Hyperthyroidism
Male
Molecular Sequence Data
Mutation
Phenotype
Proto-Oncogene Proteins
Receptors, Thyroid Hormone

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