The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis

Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juveni...

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Detalhes bibliográficos
Publicado no:Meta Gene
Main Authors: Georgiou, Theodoros, Christopoulos, George, Anastasiadou, Violetta, Hadjiloizou, Stavros, Cregeen, David, Jackson, Marie, Mavrikiou, Gavriella, Kleanthous, Marina, Drousiotou, Anthi
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287815/
https://ncbi.nlm.nih.gov/pubmed/25606403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2014.01.007
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