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Keywords: Hirschsprung disease
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Journal Articles
J Cell Sci (1994) 1994 (Supplement_18): 43–49.
Published: 01 January 1994
...Darrin P. Smith; Charis Eng; Bruce A. J. Ponder SUMMARY Distinct point mutations in the RET proto-oncogene are the cause of the inherited multiple endocrine neoplasia type 2 syndromes (MEN 2), and the congenital gut disorder Hirschsprung disease. The site and type of these mutations suggests...