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Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Authors: Dutrannoy, V.; Demuth, I.; Baumann, U.; Schindler, D.; Konrat, K.; Neitzel, H.; Gillessen-Kaesbach, G.; Radszewski, J.; Rothe, S.; Schellenberger, M. T.; Nurnberg, G.; Nurnberg, P.; Teik, K. W.; Nallusamy, R.; Reis, A.; Sperling, K.; Digweed, M.; Varon, R.
Date of Publication (YYYY-MM-DD): 2010-07-01
Title of Journal: Human Mutation
Volume: 31
Issue / Number: 9
Start Page: 1059
End Page: 1068
Document Type: Article
ID: 539705.0
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Authors: Clayton, P.; Fischer, B.; Mann, A.; Mansour, S.; Rossier, E.; Veen, M.; Lang, C.; Baasanjav, S.; Kieslich, M.; Brossuleit, K.; Gravemann, S.; Schnipper, N.; Karbasyian, M.; Demuth, I.; Zwerger, M.; Vaya, A.; Utermann, G.; Mundlos, S.; Stricker, S.; Sperling, K.; Hoffmann, K.
Date of Publication (YYYY-MM-DD): 2010-05-21
Title of Journal: Nucleus
Volume: 1
Issue / Number: 4
Start Page: 354
End Page: 366
Document Type: Article
ID: 540985.0
 
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