NDST1 missense mutations in autosomal recessive intellectual disability期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

NDST1 missense mutations in autosomal recessive intellectual disability

Authors:	Miriam S. Reuter Luciana Musante Hao Hu Stefan Diederich Heinrich Sticht Arif B. Ekici Steffen Uebe Thomas F. Wienker Oliver Bartsch Ulrich Zechner Cornelia Oppitz Krystyna Keleman Rami Abou Jamra Hossein Najmabadi Susann Schweiger André Reis Kimia Kahrizi

Affiliation:	1. Institute of Human Genetics, Friedrich‐Alexander‐Universit?t Erlangen‐Nürnberg, Erlangen, Germany;2. Correspondence to:;3. Miriam Reuter, Schwabachanlage 10, 91054 Erlangen, Germany;4. E‐mail:;5. Kimia Kahrizi, Kodakyar St, Daneshjo Ave, Tehran, Iran;6. E‐mail:;7. Max‐Planck‐Institute for Molecular Genetics, Dept. Human Molecular Genetics, Berlin, Germany;8. Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany;9. Institute of Biochemistry, Friedrich‐Alexander‐Universit?t Erlangen‐Nürnberg, Erlangen, Germany;10. Research Institute of Molecular Pathology, Vienna, Austria;11. Janelia Farm Research Campus, Howard Hughes Medical Institute, Ashburn, Virginia;12. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;13. Kariminejad‐Najmabadi Pathology & Genetics Center Tehran, Tehran, Iran

Abstract:

Keywords:	autosomal recessive intellectual disability heparan sulfate biosynthesis NDST1 sulfateless