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Title : Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport - Hishinuma_1998_Endocr.J_45_315 |
Author(s) : Hishinuma A , Kasai K , Masawa N , Kanno Y , Arimura M , Shimoda SI , Ieiri T |
Ref : Endocrine Journal , 45 :315 , 1998 |
Abstract : Hishinuma_1998_Endocr.J_45_315 |
ESTHER : Hishinuma_1998_Endocr.J_45_315 |
PubMedSearch : Hishinuma_1998_Endocr.J_45_315 |
PubMedID: 9790265 |
Title : Identification of a splicing mutation responsible for a human hereditary goiter with hypothyroidism. (Abstract) - |
Author(s) : Cochaux P , Ieiri T , Targovnik H , Suzuki M , Shimoda SI , Perret J , Vassart G |
Ref : American Journal of Human Genetics , 49 (suppl.) :131 , 1991 |
PubMedID: |