A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
A case of congenital goiter with defective thyroglobulin synthesis has been studied in molecular terms. The patient is the fifth of a kindred of six, three of which have a goiter. The parents are first cousins. Segregation of thyroglobulin alleles in the family was studied by Southern blotting with...
Guardat en:
| Publicat a: | J Clin Invest |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1991
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295759/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1752952/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115513 |
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