李-佛美尼综合征家族中的一种新型TP53剪接突变：一名患有肾母细胞瘤的患者并非突变携带者。
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
作者信息
Varley J M, McGown G, Thorncroft M, White G R, Tricker K J, Kelsey A M, Birch J M, Evans D G
机构信息
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
出版信息
Br J Cancer. 1998 Oct;78(8):1081-3. doi: 10.1038/bjc.1998.631.
Abstract
We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.
摘要
我们报告了一个李-弗劳梅尼综合征家族，在该家族中我们检测到TP53基因第3内含子中的一个剪接受体突变。该突变影响剪接受体位点的一个不变残基，结果产生了两种异常转录本。这个家族中一名3岁的肾母细胞瘤患儿被证明不是突变携带者。
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本文引用的文献
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