Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2 -related disorders caused by missense changes.

Autor: Flannery KP; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901., Safwat S; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Matsell E; Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, B.C., Canada., Battula N; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901., Hamed AAA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Mohamed IN; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elseed MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Koko M; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Abubaker R; Sudanese Neurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abozar F; Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elsayed LEO; Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, P.O.Box 84428, Riyadh 11671, Saudi Arabia., Bhise V; Department of Pediatrics and Neurology, Rutgers - Robert Wood Johnson Medical School, New Brunswick, NJ, USA., Molday RS; Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, B.C., Canada., Salih MA; Consultant Pediatric Neurologist, Health Sector, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia., Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet and Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden.; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Solna, Sweden., Manzini MC; Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 15. Date of Electronic Publication: 2024 May 15.