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A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

โœ Scribed by Griseri, Paola; Sancandi, Monica; Patrone, Giovanna; Bocciardi, Renata; Hofstra, Robert; Ravazzolo, Roberto; Devoto, Marcella; Romeo, Giovanni; Ceccherini, Isabella


Book ID
110025014
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
158 KB
Volume
8
Category
Article
ISSN
1018-4813

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## 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 of microsatellite markers, by amplifying all 20 exons of the RET proto-oncogene and by applying a direct

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