Gaucher disease in a Turkish family.
Turfaner Ertürk
N
N
Karter
Y
Y
Tunçkale
A
A
Emre
S
S
Erdoğan
C
C
Taşan
E
E
Oztürk
E
E
D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005808:Genes, Recessive; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014421:Turkey
D005962:Glucosylceramidase