Loading...

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...

Full description

Saved in:
Bibliographic Details
Format: Artigo
Language:Inglês
Published: The Rockefeller University Press 1996
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2120816/
https://ncbi.nlm.nih.gov/pubmed/8636228
Tags: Add Tag
No Tags, Be the first to tag this record!