Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Ellen Knierim1,2, Hiromi Hirata3,4, Nicole I. Wolf5, Susanne Morales-Gonzalez1,2, Gudrun Schottmann1,2, Yu Tanaka3, Sabine Rudnik-Schöneborn6,7, Mickael Orgeur8,9, Klaus Zerres6, Stefanie Vogt10, Anne van Riesen1, Esther Gill1,2, Franziska Seifert1,2, Angelika Zwirner1,2, Janbernd Kirschner11, Hans Hilmar Goebel12, Christoph Hübner1, Sigmar Stricker8,9, David Meierhofer8, Werner Stenzel12
1Department of Neuropediatrics, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany
2NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany
3Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara 252-5258, Japan
4Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan
5Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, 1007 MB Amsterdam, the Netherlands
6Institute of Human Genetics and University Hospital, Rheinisch-Westfälische Technische Hochschule Aachen University, 52074 Aachen, Germany
7Division of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria
8Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
9Free University Berlin, Institute for Chemistry and Biochemistry, 14195 Berlin, Germany
10Medizinisches Versorgungszentrum Dr. Eberhard & Partner, 44137 Dortmund, Germany
11Department of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, 79106 Freiburg, Germany
12Department of Neuropathology, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany
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Thông tin xuất bản
The American Journal of Human Genetics
Tập 98
473-489
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