Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.
Clayton
P T
PT
Institute of Child Health, London, UK.
Kalter
D C
DC
Atherton
D J
DJ
Besley
G T
GT
Broadhead
D M
DM
D000217:Acyltransferases / Q000172:deficiency*; D002478:Cells, Cultured; D002806:Chondrodysplasia Punctata / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D008830:Microbodies / Q000201:enzymology*; D012016:Reference Values; D012867:Skin / Q000201:enzymology; D014960:X Chromosome
D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase