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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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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Hu, P Y, Waheed, A, Sly, W S
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1995
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC42438/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7892236/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.6.2136
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