A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome.
Misago
Noriyuki
N
Joh
Keiichiro
K
Yatsuki
Hitomi
H
Soejima
Hidenobu
H
Narisawa
Yutaka
Y
D000328:Adult; D000368:Aged; D044466:Asian People; D005260:Female; D006801:Humans; D007564:Japan; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins