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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Invest
Prif Awduron: Ieiri, T, Cochaux, P, Targovnik, H M, Suzuki, M, Shimoda, S, Perret, J, Vassart, G
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 1991
Pynciau:
Research Article
Mynediad Ar-lein: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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