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Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity

BACKGROUND: Expansion of a CAG repeat in the coding region of exon 1 in the ATXN2 gene located in human chromosome 12q24.1 causes the neurodegenerative disease spinocerebellar ataxia type 2 (SCA2). In contrast to other polyglutamine (polyQ) disorders, the SCA2 repeat is not highly polymorphic in cen...

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Detalles Bibliográficos
Autores principales: Figueroa, Karla P., Farooqi, Sadaf, Harrup, Kristopher, Frank, Johnathan, O'Rahilly, Stephen, Pulst, Stefan M.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791421/
https://www.ncbi.nlm.nih.gov/pubmed/20016785
http://dx.doi.org/10.1371/journal.pone.0008280