[Aspartylglucosaminuria: a point mutation as a cause of mental defect].
Ikonen
E
E
Kansanterveyslaitos, lääketieteellisen molekyyligenetiikan osasto Mannerheimintie, Helsinki.
Palotie
L
L
D001227:Aspartylglucosylaminase / Q000235:genetics* / Q000378:metabolism; D003001:Cloning, Molecular; D005817:Genetic Counseling; D005821:Genetic Techniques; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics
D001227:Aspartylglucosylaminase
AGU-tauti: pistemutaatio kehitysvammaisuuden syynä.