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Partial rescue of human carbonic anhydrase II frameshift mutation by ribosomal frameshift.

A single-base-pair deletion in exon 7 of the human carbonic anhydrase II gene was found to be the molecular defect in a group of independently ascertained, clinically heterogeneous, Hispanic carbonic anhydrase II-deficient patients, all of whom had ancestors from the Caribbean islands. This mutation...

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Bibliografiset tiedot
Päätekijät: Hu, P Y, Waheed, A, Sly, W S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1995
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC42438/
https://ncbi.nlm.nih.gov/pubmed/7892236
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