Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

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 homozygous splice mutation (c.3020-1G > A) in neur...

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Vydáno v:Front Genet
Hlavní autoři: Kvarnung, Malin, Shahsavani, Mansoureh, Taylan, Fulya, Moslem, Mohsen, Breeuwsma, Nicole, Laan, Loora, Schuster, Jens, Jin, Zhe, Nilsson, Daniel, Lieden, Agne, Anderlid, Britt-Marie, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Birnir, Bryndis, Dahl, Niklas, Nordgren, Ann, Lindstrand, Anna, Falk, Anna
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2019
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6769111/
https://ncbi.nlm.nih.gov/pubmed/31608123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00896
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