Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
Filocamo
Mirella
M
Grossi
Serena
S
Stroppiano
Marina
M
Tortori-Donati
Paolo
P
Regis
Stefano
S
Allegri
Anna
A
Di Rocco
Maja
M
D000483:Alleles; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009422:Nervous System Diseases / Q000473:pathology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011544:Pseudogenes / Q000235:genetics
D004247:DNA; D005962:Glucosylceramidase