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Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation

✍ Scribed by Conxi Lázaro; Helena Kruyer; Antonia Gaona; Xavier Estivill


Book ID
104666051
Publisher
Springer
Year
1995
Tongue
English
Weight
453 KB
Volume
96
Category
Article
ISSN
0340-6717

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Germline mutations in the APC gene are responsible for familial adenomatous polyposis (FAP), a dominantly inherited syndrome characterized by the development of hundreds to thousands of polyps in the colon and in the rectum of affected individuals and by variable extracolonic manifestations (gastric