title: Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
authors.forename: Serena
authors.initials: S
authors.lastname: Grossi
authors.forename: Marina
authors.initials: M
authors.lastname: Stroppiano
authors.forename: Paolo
authors.initials: P
authors.lastname: Tortori-Donati
authors.forename: Stefano
authors.initials: S
authors.lastname: Regis
authors.forename: Anna
authors.initials: A
authors.lastname: Allegri
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
mesh_terms: 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
chemical_list: D004247:DNA; D005962:Glucosylceramidase