发育障碍MOPD I发育障碍中U4atac snRNA,小结合体的一个组成部分的突变

Huiling He1, Sandya Liyanarachchi, Keiko Akagi

  • 1Human Cancer Genetics Program, Ohio State University, Columbus, OH 43210, USA.

Science (New York, N.Y.)
|April 9, 2011
PubMed
概括

在U4atac小核RNA (snRNA) 中的突变会导致小脑骨质疏松性原始矮体I型 (MOPD I). 这凸显了微型内子拼接在人类发展中的关键作用.

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