Alterações na homeostase redox e do retículo endoplasmático: mecanismos associados à lipodistrofia generalizada congênita do tipo 2
Congenital generalized lipodystrophy (CGL) type 2 consists of a rare autosomal recessive syndrome characterized by almost complete lack of body fat at birth. CGL, genetically caused by loss-of-function mutations in the two alleles of the BSCL2 gene, was phenotypically characterized by hypertrigly...
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| Формат: | Dissertação |
| Язык: | pt_BR |
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Brasil
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| Online-ссылка: | https://repositorio.ufrn.br/jspui/handle/123456789/27009 |
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