A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.

Kim, P S; Ding, M; Menon, S; Jung, C G; Cheng, J M; Miyamoto, T; Li, B; Furudate, S; Agui, T

Kim, P S; Ding, M; Menon, S; Jung, C G; Cheng, J M; Miyamoto, T; Li, B; Furudate, S; Agui, T.

Affiliation

Kim PS; Department of Medicine, University of Cincinnati and Veterans Affairs Medical Center, Ohio 45267, USA.

Mol Endocrinol ; 14(12): 1944-53, 2000 Dec.

Article in En | MEDLINE | ID: mdl-11117525

Subject(s)

Congenital Hypothyroidism; Dwarfism/genetics; Hypothyroidism/genetics; Mutation, Missense; Thyroglobulin/genetics; Animals; Base Sequence; Chromosome Mapping; DNA, Complementary; Dwarfism/complications; Dwarfism/metabolism; Gene Expression; Goiter/metabolism; Hypothyroidism/metabolism; Molecular Sequence Data; Rats; Rats, Inbred Strains; Rats, Mutant Strains; Rats, Wistar; Thyroglobulin/metabolism; Thyroid Gland/metabolism

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Collection: 01-internacional Database: MEDLINE Main subject: Thyroglobulin / Mutation, Missense / Congenital Hypothyroidism / Dwarfism / Hypothyroidism Type of study: Etiology_studies Limits: Animals Language: En Journal: Mol Endocrinol Journal subject: BIOLOGIA MOLECULAR / ENDOCRINOLOGIA Year: 2000 Document type: Article Affiliation country: United States

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