TY  - GEN
AU  - Farhan,Sali M K
AU  - Robinson,John F
AU  - McIntyre,Adam D
AU  - Marrosu,Maria G
AU  - Ticca,Anna F
AU  - Loddo,Sara
AU  - Carboni,Nicola
AU  - Brancati,Francesco
AU  - Hegele,Robert A
TI  - A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy
SN  - 1916-7075
PY  - 2015///0218
KW  - Adult
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Female
KW  - Follow-Up Studies
KW  - Genetic Linkage
KW  - Genotype
KW  - Homozygote
KW  - Humans
KW  - Lipodystrophy, Familial Partial
KW  - genetics
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Retrospective Studies
KW  - Siblings
KW  - Sterol Esterase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.cjca.2014.09.007
ER  -