Comparison of phenotypes in male and female individuals of a new family with Dunnigan type of familial partial lipodystrophy due to a lamin A/C R482W mutation.
Laudes
M
M
Department of Internal Medicine II and Centre of Molecular Medicine, University of Cologne, Germany. matthias.laudes@uk-koeln.de
Oberhauser
F
F
Walgenbach
K
K
Schubert
M
M
Schulte
D M
DM
Faust
M
M
Krone
W
W
D000293:Adolescent; D001483:Base Sequence; D050218:Body Fat Distribution; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D044465:White People / Q000235:genetics; D055815:Young Adult
D034904:Lamin Type A