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Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

✍ Scribed by Stephan Lins; Ryong Kim; Lars Krüger; Krystyna H. Chrzanowska; Eva Seemanova; Martin Digweed


Book ID
116508291
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
669 KB
Volume
447
Category
Article
ISSN
0378-1119

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Clinical variability and novel mutations
✍ Véronique Dutrannoy; Ilja Demuth; Ulrich Baumann; Detlev Schindler; Kateryna Kon 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 463 KB

We have previously shown that mutations in the genes encoding DNA Ligase IV (LIGIV) and RAD50, involved in DNA repair by nonhomologous-end joining (NHEJ) and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS). Very rece