Farhan, Sali M K

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. [electronic resource] - The Canadian journal of cardiology Dec 2014 - 1649-54 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1916-7075

10.1016/j.cjca.2014.09.007 doi


Adult
Codon, Nonsense
DNA Mutational Analysis
Exome
Female
Follow-Up Studies
Genetic Linkage
Genotype
Homozygote
Humans
Lipodystrophy, Familial Partial--genetics
Male
Pedigree
Phenotype
Retrospective Studies
Siblings
Sterol Esterase--genetics