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NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic

✍ Scribed by Barbara Pardini; Alessio Naccarati; Veronika Polakova; Zdenek Smerhovsky; Ivona Hlavata; Pavel Soucek; Jan Novotny; Ludmila Vodickova; Vera Tomanova; Stefano Landi; Pavel Vodicka

Book ID: 113809313
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 140 KB
Volume: 666
Category: Article
ISSN: 0027-5107
DOI: 10.1016/j.mrfmmm.2009.04.004

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Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. It shares a number of features with the Ataxia telangiectasia (AT) syndrome: the most notable are high sensitivi