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Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers

✍ Scribed by Jir̆ı́ Drábek; Marián Hajdúch; Libus̆e Gojová; Evz̆en Weigl; Vladimı́r Mihál


Book ID
114135400
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
92 KB
Volume
138
Category
Article
ISSN
0165-4608

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Carrier frequency of mutation 657del5 in
✍ Krystyna H. Chrzanowska; Dorota Piekutowska-Abramczuk; Ewa Popowska; Małgorzata 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 French ⚖ 94 KB

## Abstract Nijmegen breakage syndrome (NBS) is a human autosomal recessive disease characterized by genomic instability and enhanced cancer predisposition, in particular to lymphoma and leukemia. Recently, significantly higher frequencies of heterozygous carriers of the Slavic founder __NBS1__ mut