Familial form of Hirschsprung disease: Nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes

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DOI:10.1002/1096-8628(20000904)94:1<19::AID-AJMG5>3.0.CO;2-K
作者：Marc Munnes, Sepideh Fanaei, Birgit Schmitz, Indrikis Muiznieks, Alexander M. Holschneider, Walter Doerfler
文献类型：期刊论文
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文献链接：https://doi.org/10.1002/1096-8628(20000904)94:1<19::AID-AJMG5>3.0.CO;2-K

Wiley

Abstract：Hirschsprung disease (HSCR; McKusick 142623) or aganglionic megacolon is a frequent (1 in 5,000 live births) heritable disorder of the enteric nervous system. By haplotyping with a variety o

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