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Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

✍ Scribed by Regina Waltes; Reinhard Kalb; Magtouf Gatei; Amanda W. Kijas; Markus Stumm; Alexandra Sobeck; Britta Wieland; Raymonda Varon; Yaniv Lerenthal; Martin F. Lavin; Detlev Schindler; Thilo Dörk


Book ID
113422638
Publisher
American Society of Human Genetics
Year
2009
Tongue
English
Weight
867 KB
Volume
84
Category
Article
ISSN
0002-9297

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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