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Novel Alu Retrotransposon Insertion Leading to Alström Syndrome

Alström Syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal failure. Alström Syndrome is caused by recessive...

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Detalhes bibliográficos
Main Authors: Taşkesen, Mustafa, Collin, Gayle B., Evsikov, Alexei V., Güzel, Ayşegül, Özgül, R. Köksal, Marshall, Jan D., Naggert, Jürgen K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3264847/
https://ncbi.nlm.nih.gov/pubmed/21877133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-011-1083-9
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