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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...

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Autori principali: Ieiri, T, Cochaux, P, Targovnik, H M, Suzuki, M, Shimoda, S, Perret, J, Vassart, G
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1991
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC295759/
https://ncbi.nlm.nih.gov/pubmed/1752952
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