Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Molecular Genetics and Metabolism Reports - Tập 12 - Trang 76-79 - 2017
Belal Azab1,2,3, Zain Dardas2,3,4, Mohannad Hamarsheh5, Mohammad Alsalem6, Zaid Kilani5, Farah Kilani5, Abdalla Awidi3,7, Hanan Jafar3, Sami Amr8
1Department of Physiology and Biochemistry, School of Medicine, The University of Jordan, Amman 11942, Jordan
2Department of Medical Laboratory Sciences, School of Science, The University of Jordan, Amman 11942, Jordan
3Cell Therapy Center, the University of Jordan, Amman 11942, Jordan
4Department of Medical Laboratory Sciences, Faculty of Applied Medical sciences, Jordan University of Science and Technology, Irbid 22110, Jordan
5Farah Hospital, Amman 11183, Jordan
6Department of Anatomy and Histology, School of Medicine, the University of Jordan, Amman 11942, Jordan
7Department of Internal Medicine Hematology and Oncology Unit, The University of Jordan, Amman 11942, Jordan
8Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston 02115, USA

Tài liệu tham khảo

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