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2 results on '"Loges, Niki Tomas"'

1. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

Author

Loges, Niki Tomas, Olbrich, Heike, Becker-Heck, Anita, Haffner, Karsten, Heer, Angelina, Reinhard, Christina, Schmidts, Miriam, Kispert, Andreas, Zariwala, Maimoona A., Leigh, Margaret W., Knowles, Michael R., Zentgraf, Hanswalter, Seithe, Horst, Nurnberg, Gudrun, Nurnberg, Peter, Reinhardt, Richard, and Omran, Heymut

Subjects
Dynein -- Health aspects, Gene mutations -- Analysis, Movement disorders -- Genetic aspects, Biological sciences
Abstract

Several functional analyses are conducted to explain the ability of the deletions and point mutations of LRRC50 in causing the primary ciliary dyskinesia (PCD). The outer and the inner dynein arm defects are shown to be the main defects that lead to the onset of the disorder.

Published
2009

2. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

Author

Sass, Jorn Oliver, Mohr, Verena, Olbrich, Heike, Engelke, Udo, Horvath, Judit, Fliegauf, Manfred, Loges, Niki Tomas, Schweitzer-Krantz, Susanne, Moebus, Ralf, Weiler, Polly, Kispert, Andreas, Superti-Furga, Andrea, Wevers, Ron A., and Omran, Heymut

Subjects
Metabolism, Inborn errors of -- Genetic aspects, Gene mutations -- Research, Amino acids -- Chemical properties, Biological sciences
Published
2006

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