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Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia

Canine cyclic neutropenia is an autosomal recessive disease in which the number of neutrophils, the primary blood phagocyte, oscillates between almost zero and normal values with two week frequency. We previously found that the causative mutation is an insertion of an extra adenine residue within a...

詳細記述

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書誌詳細
主要な著者: Benson, Kathleen F., Person, Richard E., Li, Feng-Qian, Williams, Kayleen, Horwitz, Marshall
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2004
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC535682/
https://ncbi.nlm.nih.gov/pubmed/15576359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkh974
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