Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism (Q33685898)

28 July 2017

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title

Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism (English)

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28 July 2017

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Pohlenz J

1

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28 July 2017

Refetoff S

series ordinal

2

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28 July 2017

publication date

1 May 1999

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28 July 2017

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28 July 2017

volume

81

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28 July 2017

issue

5

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28 July 2017

page(s)

469-476

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Chapter 15 The mediator of thyroidal iodide accumulation: The sodium/iodide symporter

28 July 2017

cites work

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The modulation of the human sodium iodide symporter activity by Graves' disease sera

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Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter

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7 January 2021

N-linked glycosylation of the thyroid Na+/I- symporter (NIS). Implications for its secondary structure model

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7 January 2021

Cloning of the human sodium lodide symporter

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7 January 2021

Sequence and structure of a human glucose transporter

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7 January 2021

Membrane topology of the human Na+/glucose cotransporter SGLT1

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7 January 2021

Cloning of the human sodium-iodide symporter promoter and characterization in a differentiated human thyroid cell line, KAT-50

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7 January 2021

Congenital hypothyroidism caused by a mutation in the Na+/I- symporter

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7 January 2021

Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene

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7 January 2021

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site

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7 January 2021

A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect

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7 January 2021

Novel, Missense, and Loss-of-Function Mutations in the Sodium/Iodide Symporter Gene Causing Iodide Transport Defect in Three Japanese Patients

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7 January 2021

Some observations on cretinism and its treatment

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7 January 2021

Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism

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7 January 2021

The role of serum thyroglobulin concentration and thyroid ultrasound imaging in the detection of iodide transport defects in infants

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7 January 2021

The Salivary Iodide Trap in Nontoxic Goiter

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7 January 2021

Iodide transport in a continuous line of cultured cells from rat thyroid

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7 January 2021

Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism

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7 January 2021

10.1016/S0300-9084(99)80097-2

Identifiers

DOI

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28 July 2017

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