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在人类del22q11.2综合征中TBX1的作用

Hisato Yagi1, Yoshiyuki Furutani, Hiromichi Hamada

  • 1Division of Genomic Medicine, Institute of Advanced Biomedical Engineering and Science, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

Lancet (London, England)
|October 31, 2003
PubMed
概括

染色体22q11.2的删除会导致一个常见的微删除综合征. TBX1基因突变被确定为这种综合征的重要遗传原因,即使没有完全删除.

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