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pro vyhledávání: '"Ann Nordgren"'
Autor:
Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, Mohsen Moslem, Nicole Breeuwsma, Loora Laan, Jens Schuster, Zhe Jin, Daniel Nilsson, Agne Lieden, Britt-Marie Anderlid, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Bryndis Birnir, Niklas Dahl, Ann Nordgren, Anna Lindstrand, Anna Falk
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
The etiology of hereditary ataxia syndromes is heterogeneous, and the mechanisms underlying these disorders are often unknown. Here, we utilized exome sequencing in two siblings with progressive ataxia and muscular weakness and identified a novel hom
Externí odkaz:
https://doaj.org/article/eb1ae168167442b19cc7e473c85356fe