A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which ⩾14 different genetic loci have been identified. In some SCA types, expanded tri- or pentanucleotide repeats have been identified, and the length of these expansion...

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Autors principals: van Swieten, John C., Brusse, Esther, de Graaf, Bianca M., Krieger, Elmar, van de Graaf, Raoul, de Koning, Inge, Maat-Kievit, Anneke, Leegwater, Peter, Dooijes, Dennis, Oostra, Ben A., Heutink, Peter
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2003
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC378625/
https://ncbi.nlm.nih.gov/pubmed/12489043
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