Gomes, Karina Braga

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