A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression?

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DOI:10.1002/humu.20135
作者：Paola Griseri, Tiziana Bachetti, Francesca Puppo, Francesca Lantieri, Roberto Ravazzolo, Marcella Devoto, Isabella Ceccherini
文献类型：期刊论文
补充材料：只需要正文
文献链接：https://doi.org/10.1002/humu.20135

Hindawi

Abstract：Hirschsprung disease (HSCR) is a complex genetic defect of intestinal innervation mainly ascribed to loss of function mutations of the RET gene. Although RETcoding mutations account for only

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