Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. [electronic resource]
- The Journal of clinical endocrinology and metabolism Jan 2004
- 357-61 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0021-972X
10.1210/jc.2003-030415 doi
1-Acylglycerol-3-Phosphate O-Acyltransferase Acyltransferases--genetics Brazil Consanguinity Exons--genetics Female GTP-Binding Protein gamma Subunits--genetics Gene Deletion Homozygote Humans Lipodystrophy--congenital Male Mutation Pedigree Polymorphism, Restriction Fragment Length