Article
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
The Journal of clinical endocrinology and metabolism - 1 Jan 2004
Gomes Karina Braga, Fernandes Ana Paula, Ferreira Alessandro Clayton Souza, Pardini Hermes, Garg Abhimanyu, Magré Jocelyne, Pardini Victor Cavalcanti
Abstract excerpt
Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by a near total congenital absence of fat and predisposition to develop diabetes mellitus. In this study, we investigated the presence of mutations in the Seipin and 1-acylglycerol phosphate acyltransferase 2 (AGPAT2) genes in 32...
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