Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report

Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a CAG repeat located in the ATXN7 gene encoding sequence on chromosome 3p21.1. Although SCA7 is an uncommon autosomal dominant ata...

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Detalhes bibliográficos
Publicado no:Int J Clin Exp Med
Main Authors: Magaña, Jonathan J, Tapia-Guerrero, Yessica S, Velázquez-Pérez, Luis, Cruz-Mariño, Tania, Cerecedo-Zapata, Cesar M, Gómez, Rocío, Murillo-Melo, Nadia M, González-Piña, Rigoberto, Hernández-Hernández, Oscar, Cisneros, Bulmaro
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4307576/
https://ncbi.nlm.nih.gov/pubmed/25664129
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