Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung''s disease

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DOI:10.1038/367377a0
作者：Giovanni Romeo, Patrizia Ronchetto, Yin Luo, Virginia Barone, Marco Seri, Isabella Ceccherini, Barbara Pasini, Renata Bocciardi, Margherita Lerone, Helena
文献类型：期刊论文
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文献链接：https://doi.org/10.1038/367377a0

Nature

Abstract：HIRSCHSPRUNG''S disease is a genetic disorder of neural crest development affecting 1 in 5,000 births. It is characterized by the absence of intramural ganglion cells in the hindgut, which o

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上一个求助:其它数据库Naturally Fractured Carbonate Reservoir Characterization: A Case Study of a Mature High-Pour Point Oil Field in Hungary 下一个求助:Oxford University PressMutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.