Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.
Wanders
R J
RJ
Saelman
D
D
Heymans
H S
HS
Schutgens
R B
RB
Westerveld
A
A
Poll-Thé
B T
BT
Saudubray
J M
JM
Van den Bosch
H
H
Strijland
A
A
Schram
A W
AW
D000217:Acyltransferases / Q000172:deficiency*; D001921:Brain / Q000002:abnormalities; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D005816:Genetic Complementation Test; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000150:complications; D008830:Microbodies / Q000201:enzymology; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000150:complications; D012035:Refsum Disease / Q000235:genetics*; D013577:Syndrome
D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase