Konu "Activating Germline Mutation" için PubMed İndeksli Yayın Koleksiyonu listeleme
Toplam kayıt 2, listelenen: 1-2
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Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism
(Elsevier Ireland Ltd, 2010)TSH receptor (TSHR) germline mutations occur as activating mutations in familial non-autoimmune hyperthyroidism (FNAH) or sporadic non-autoimmune hyperthyroidism (SNAH). Up to date 17 constitutively activating TSHR mutations ... -
Shared Sporadic and Somatic Thyrotropin Receptor Mutations Display More Active in Vitro Activities than Familial Thyrotropin Receptor Mutations
(Mary Ann Liebert, Inc, 2011)Background: Germline thyrotropin receptor (TSHR) mutations are associated with sporadic congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism. Somatic TSHR mutations are associated with toxic ...