Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism (Q35990311)

11 August 2017

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title

Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism (English)

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11 August 2017

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Jussara Vono-Toniolo

1

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11 August 2017

Peter Kopp

series ordinal

2

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11 August 2017

publication date

1 February 2004

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Arquivos Brasileiros de Endocrinologia e Metabologia

11 August 2017

published in

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11 August 2017

volume

48

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11 August 2017

issue

1

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11 August 2017

page(s)

70-82

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Genetic regulation of thyroid development

11 August 2017

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

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Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter

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Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Normal-sized thyroglobulin messenger ribonucleic acid in Dutch goats with a thyroglobulin synthesis defect is translated into a 35,000 molecular weight N-terminal fragment

21 January 2018

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Inherited congenital goiter in mice

21 January 2018

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A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases

21 January 2018

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A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats

21 January 2018

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21 January 2018

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21 January 2018

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10.1590/S0004-27302004000100009

21 January 2018

Identifiers

DOI

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11 August 2017

1 reference