A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals.
作者:
主题词
选择性剪接(Alternative Splicing);碱基序列(Base Sequence);印迹法, 蛋白质(Blotting, Western);染色体倒位(Chromosome Inversion);DNA引物(DNA Primers);人类(Humans);婴儿(Infant);内含子(Introns);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变(Mutation);聚腺苷酸类(Poly A);RNA, 信使(RNA, Messenger);逆转录聚合酶链反应(Reverse Transcriptase Polymerase Chain Reaction);序列分析, DNA(Sequence Analysis, DNA);序列缺失(Sequence Deletion);西班牙(Spain);Wiskott-Aldrich综合征(Wiskott-Aldrich Syndrome);Wiskott-Aldrich综合征蛋白质(Wiskott-Aldrich Syndrome Protein)
DOI
10.1007/s10038-005-0328-7
PMID
16372137
发布时间
2020-02-28
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