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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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發表在:Proc Natl Acad Sci U S A
Principais autores: Ricketts, M H, Simons, M J, Parma, J, Mercken, L, Dong, Q, Vassart, G
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 1987
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在線閱讀: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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