Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.
Wu
Y-R
YR
Hung
S-I
SI
Chang
Y-C
YC
Chen
S-T
ST
Lin
Y-L
YL
Chung
W-H
WH
D000328:Adult; D020821:Dystonic Disorders / Q000235:genetics* / Q000523:psychology*; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000235:genetics* / Q000523:psychology*; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D009154:Mutation; D010641:Phenotype; D013624:Taiwan
C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits