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An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism
In humans, deficient thyroglobulin (Tg, the thyroid prohormone) is an important cause of congenital hypothyroid goiter; further, homozygous mice expressing two cog/cog alleles (linked to the Tg locus) exhibit the same phenotype. Tg mutations might affect multiple different steps in thyroid hormone s...
| Formato: | Texto |
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| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
1996
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2120816/ https://www.ncbi.nlm.nih.gov/pubmed/8636228 |