Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
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Molecules important for thyroid hormone synthesis and action - known facts and future perspectivesSingle nucleotide polymorphism of the human high affinity choline transporter alters transport rateCongenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice siteGenetic factors that might lead to different responses in individuals exposed to perchlorate.Genetic disorders coupled to ROS deficiencyThyroid iodide efflux: a team effort?Genetic causes of congenital hypothyroidism due to dyshormonogenesisEffect of thyroid statuses on sodium/iodide symporter (NIS) gene expression in the extrathyroidal tissues in mice.Mapping a dominant form of multinodular goiter to chromosome Xp22The sodium iodide symporter: its pathophysiological and therapeutic implications.Genetics of congenital hypothyroidismMolecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect.Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis.The biology of the sodium iodide symporter and its potential for targeted gene delivery.Iodine mediated mechanisms and thyroid carcinoma.Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect.Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosolSLC5A5 cotransports Na+ with I- from extracellular region to cytosolClinical Significance of Thyroid-Stimulating Hormone Receptor Gene Mutations and/or Sodium-Iodine Symporter Gene Overexpression in Indeterminate Thyroid Fine Needle BiopsiesHigh frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidismMutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis
P2860
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P2860
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
description
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1997
@ast
im Juni 1997 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: June 1997)
@en
vedecký článok (publikovaný 1997-06)
@sk
vědecký článek publikovaný v roce 1997
@cs
wetenschappelijk artikel (gepubliceerd in 1997-06)
@nl
наукова стаття, опублікована в червні 1997
@uk
name
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@ast
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@en
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@nl
type
label
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@ast
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@en
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@nl
prefLabel
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@ast
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@en
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@nl
P2093
P2860
P3181
P356
P1433
P1476
Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
@en
P2093
H Fujiwara
P2860
P2888
P3181
P356
10.1038/NG0697-124
P407
P577
1997-06-01T00:00:00Z