Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.
Savage
D B
DB
Soos
M A
MA
Powlson
A
A
O'Rahilly
S
S
McFarlane
I
I
Halsall
D J
DJ
Barroso
I
I
Thomas
E L
EL
Bell
J D
JD
Scobie
I
I
Belchetz
P E
PE
Kelly
W F
WF
Schafer
A J
AJ
D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A; D034882:Lamins / Q000235:genetics*; D008060:Lipodystrophy / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000502:physiology*
C494847:LMNA protein, human; D034904:Lamin Type A; D034882:Lamins