Clinical and genetic investigations were undertaken in a case of familial hyperthyroidism, with onset of thyrotoxic symptoms varying between childhood/adolescence.

A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism / L. Alberti, M. C. Proverbio, S. Costagliola, G. Weber, P. Beck-Peccoz, G. Chiumello, L. Persani. - In: EUROPEAN JOURNAL OF ENDOCRINOLOGY. - ISSN 0804-4643. - 145:3(2001 Sep), pp. 249-54-254.

A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism

M. C. Proverbio
Secondo
;
P. Beck-Peccoz;L. Persani
Ultimo
2001

Abstract

Clinical and genetic investigations were undertaken in a case of familial hyperthyroidism, with onset of thyrotoxic symptoms varying between childhood/adolescence.
Pedigree; Animals; COS Cells; Humans; Cyclic AMP; Gene Expression; Thyrotropin; Receptors, Thyrotropin; Child, Preschool; Cloning, Molecular; Mutagenesis, Site-Directed; Transfection; Heterozygote; DNA; Flow Cytometry; Germ-Line Mutation; Female; Hyperthyroidism
Settore MED/13 - Endocrinologia
Settore MED/38 - Pediatria Generale e Specialistica
set-2001
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/193947
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