A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.

The hereditary goitre of Afrikander cattle is an autosomal recessive disease characterized in homozygotes by the production of abnormal thyroglobulin (Tg) and the coexistence in the thyroid of normal-sized 8.4-kilobase (kb) Tg mRNA with a misspliced 7.3-kb message having lost exon 9. We have cloned...

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Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Ricketts, M H, Simons, M J, Parma, J, Mercken, L, Dong, Q, Vassart, G
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 1987
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC304832/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3472203/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.84.10.3181
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