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Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.

A thalassemic beta-globin gene cloned from a haplotype I chromosome contains a T to G transversion at position 116 of IVS1 which results in the generation of an abnormal alternative acceptor splice site. Transient expression studies revealed a 4-fold decrease in the amount of RNA produced with great...

詳細記述

保存先:
書誌詳細
主要な著者: Metherall, J E, Collins, F S, Pan, J, Weissman, S M, Forget, B G
フォーマット: Artigo
言語:Inglês
出版事項: 1986
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1167152/
https://ncbi.nlm.nih.gov/pubmed/3780671
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