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Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

✍ Scribed by Vanessa Lemahieu; J.M. Gastier; Uta Francke


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
499 KB
Volume
14
Category
Article
ISSN
1059-7794

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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