LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
Fukuchi
K
K
Department of Genetics, Schools of Medicine and Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA. fukuchi@uab.edu
Katsuya
T
T
Sugimoto
K
K
Kuremura
M
M
Kim
H D
HD
Li
L
L
Ogihara
T
T
D006579:Heterozygote; D006801:Humans; D007564:Japan; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011371:Progeria / Q000175:diagnosis / Q000235:genetics*; D022821:RNA Splice Sites; D017384:Sequence Deletion; D013577:Syndrome
D034904:Lamin Type A; D022821:RNA Splice Sites; C440308:lamin C