A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.
Fujiyama
J
J
Third Department of Internal Medicine, Kagoshima University, School of Medicine, Fukui, Japan.
Sakuraba
H
H
Kuriyama
M
M
Fujita
T
T
Nagata
K
K
Nakagawa
H
H
Osame
M
M
D000740:Anemia; D002478:Cells, Cultured; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005838:Genotype; D006801:Humans; D007223:Infant; D007564:Japan; D008049:Lipase / Q000235:genetics* / Q000378:metabolism; D017093:Liver Failure; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000201:enzymology; D015223:Wolman Disease / Q000201:enzymology / Q000235:genetics*
D008049:Lipase